Submissions for variant Single allele

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Total submissions: 1435

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000507088	SCV000604011	benign	not specified	2017-03-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000507675	SCV000604012	benign	not provided	2017-06-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000506667	SCV000604964	benign	not specified	2016-07-26	criteria provided, single submitter	clinical testing
Baylor Miraca Genetics Laboratories,	RCV000240814	SCV000258399	pathogenic	Progressive intrahepatic cholestasis	2015-12-17	criteria provided, single submitter	clinical testing	This variant was found in compound heterozygous status with another pathogenic insertion variant in two affected members of a Caucasian family
Baylor Miraca Genetics Laboratories,	RCV000414986	SCV000328750	pathogenic	1q21.1 recurrent microdeletion		no assertion criteria provided	clinical testing	Our laboratory reported two molecular diagnoses, a variant in CTNNB1 (NM_001904.3, c.283C>T) and a 1q21.1q21.2 deletion, in an individual with global developmental delay, intellectual disability, hypotonia, hypertonia/spasticity, dysmorphic features, microcephaly, hyperextensibility, joint contractures and failure to thrive.
Baylor Miraca Genetics Laboratories,	RCV000414764	SCV000328752	likely pathogenic	Global developmental delay; Seizures; Intellectual disability		no assertion criteria provided	clinical testing	Our laboratory reported two molecular diagnoses, a variant in SOX11 (NM_003108.3:c.1286G>A) and a 17q11.2 duplication, in an individual with delayed motor milestones, delayed speech, intellectual disability, autism, attention deficit hyperactivity disorder, aggression, oppositional defiant disorder, episodes of staring spells, and mild dysmorphic features (incomplete synophrys and short pedal digits).
Baylor Miraca Genetics Laboratories,	RCV000415425	SCV000328772	pathogenic	Ethylmalonic encephalopathy	2015-12-04	no assertion criteria provided	clinical testing	Our laboratory reported dual molecular diagnoses in SLC2A9 (NM_020041.2, c.1138C>T) and ETHE1 (homozygous deletion) in one individual with reported features that include hypotonia, retinal visual abnormalities, and nephrotic syndrome. The SLC2A9 variant has been previously reported as disease-causing (PMID 19026395, 24397858, 22132964) and was found in one other individual: a 10-year-old male with autism spectrum, tics, macrocephaly.
Baylor Miraca Genetics Laboratories,	RCV000414871	SCV000328812	pathogenic	Becker muscular dystrophy; Duchenne muscular dystrophy	2015-09-05	no assertion criteria provided	clinical testing	Our laboratory reported dual molecular diagnoses in KIF5C (NM_004522.2, c.709G>A) and DMD (exon 49 deletion) in this individual reported to have features of global developmental delay, seizures, abnormal tooth eruption, autism, cortical brain dysplasia, aggressive behavior, balance abnormalities, and strabismus.
Baylor Miraca Genetics Laboratories,	RCV000414802	SCV000328842	pathogenic	Infantile neuroaxonal dystrophy	2015-12-07	no assertion criteria provided	clinical testing	Our laboratory reported dual molecular diagnoses in PLA2G6 (homozygous exon 2 deletion) and BCAP31 (NM_001139457.2, c.107C>A) in one individual with reported features which included delayed motor milestones, developmental regression, dysphagia, central hypotonia, vision loss, esotropia, cryptorchidism, cerebellar atrophy with a flattened pons and hypoplasia of the inferior vermis.
Baylor Miraca Genetics Laboratories,	RCV000415202	SCV000328856	pathogenic	Becker muscular dystrophy; Duchenne muscular dystrophy	2015-09-05	no assertion criteria provided	clinical testing	Our laboratory reported dual molecular diagnoses in SMC1A (NM_006306.3, c.586C>T) and DMD (exon 49-51 deletion) in one individual with reported features of profound motor delay, bilateral hearing loss, diffused hypotonia, dysmorphia, cleft palate, microcephaly, vision loss, congenital heart disease.
Baylor Miraca Genetics Laboratories,	RCV000577928	SCV000584203	pathogenic	Global developmental delay; Expressive language delay; Postnatal microcephaly	2017-07-03	no assertion criteria provided	clinical testing	This deletion involving BPTF and 2 additional genes was observed once in our laboratory de novo in a 10-year-old female with intellectual disability, hypotonia, postnatal microcephaly, mild dysmorphisms, advanced bone age.
Baylor Miraca Genetics Laboratories,	RCV000577886	SCV000584204	pathogenic	Global developmental delay; Expressive language delay; Postnatal microcephaly	2017-07-03	no assertion criteria provided	clinical testing	This deletion involving BPTF alone was observed once in our laboratory (inheritance unknown) in a 4-year-old female with short stature, autistic features, speech delay, microcephaly, dysmorphic features, failure to thrive.
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University	RCV000210452	SCV000266536	pathogenic	Loeys-Dietz syndrome 4		criteria provided, single submitter	research
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University	RCV000210464	SCV000266537	pathogenic	Loeys-Dietz syndrome 4		criteria provided, single submitter	research
Biochemistry Laboratory of CDMU,Chengde Medical University	RCV000768450	SCV000899213	likely pathogenic	not provided		no assertion criteria provided	case-control
Biochemistry Laboratory of CDMU,Chengde Medical University	RCV000768451	SCV000899214	likely pathogenic	not provided		no assertion criteria provided	case-control
Biochemistry Laboratory of CDMU,Chengde Medical University	RCV000768452	SCV000899215	likely pathogenic	not provided		no assertion criteria provided	case-control
Biochemistry Laboratory of CDMU,Chengde Medical University	RCV000768453	SCV000899216	likely pathogenic	not provided		no assertion criteria provided	case-control
Biochemistry Laboratory of CDMU,Chengde Medical University	RCV000768455	SCV000899218	pathogenic	MECP2 duplication syndrome		no assertion criteria provided	case-control
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare	RCV000625585	SCV000746084	pathogenic	Polycystic kidney disease, adult type	2017-09-18	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000111479	SCV000143921	uncertain significance	Breast-ovarian cancer, familial 1	1997-09-04	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000111480	SCV000143922	uncertain significance	Breast-ovarian cancer, familial 1	1999-06-21	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000111482	SCV000143924	uncertain significance	Breast-ovarian cancer, familial 1	2013-05-21	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000111483	SCV000143925	pathogenic	Breast-ovarian cancer, familial 1	2003-11-25	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000111484	SCV000143926	pathogenic	Breast-ovarian cancer, familial 1	2013-05-21	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000111485	SCV000143927	uncertain significance	Breast-ovarian cancer, familial 1	2000-01-01	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000111486	SCV000143928	uncertain significance	Breast-ovarian cancer, familial 1	1997-09-04	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000111487	SCV000143929	uncertain significance	Breast-ovarian cancer, familial 1		no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000111491	SCV000143933	pathogenic	Breast-ovarian cancer, familial 1	2002-05-29	no assertion criteria provided	clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000505253	SCV000599309	pathogenic	Familial hypercholesterolemia	2016-03-01	criteria provided, single submitter	curation
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000505214	SCV000599316	pathogenic	Familial hypercholesterolemia	2016-03-01	criteria provided, single submitter	curation
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000505243	SCV000599317	pathogenic	Familial hypercholesterolemia	2016-03-01	criteria provided, single submitter	curation
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000505182	SCV000599318	pathogenic	Familial hypercholesterolemia	2016-03-01	criteria provided, single submitter	curation
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000505219	SCV000599319	uncertain significance	Familial hypercholesterolemia	2016-03-01	criteria provided, single submitter	curation
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000505246	SCV000599320	uncertain significance	Familial hypercholesterolemia	2016-03-01	criteria provided, single submitter	curation
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues	RCV000624863	SCV000740317	pathogenic	Spherocytosis type 2	2018-03-29	criteria provided, single submitter	clinical testing
Center for Medical Genetics Ghent,University of Ghent	RCV000240951	SCV000165997	likely pathogenic	Seizures; Intellectual disability		no assertion criteria provided	case-control
Center for Medical Genetics Ghent,University of Ghent	RCV000240885	SCV000165998	likely pathogenic	Seizures; Intellectual disability		no assertion criteria provided	case-control
Center of Genomic medicine, Geneva,University Hospital of Geneva	RCV000500418	SCV000598154	pathogenic	Osler hemorrhagic telangiectasia syndrome	2016-08-04	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana	RCV000414960	SCV000492733	pathogenic	Renal cyst; Pancreatic cysts	2015-09-23	criteria provided, single submitter	clinical testing
Centre of Medical Genetics, University of Antwerp	RCV000256227	SCV000266571	pathogenic	Thoracic aortic aneurysm and aortic dissection		no assertion criteria provided	research
Clinical Biochemistry Laboratory,Health Services Laboratory	RCV000186246	SCV000239570	uncertain significance	Primary hyperoxaluria, type I	2014-11-27	no assertion criteria provided	research
Clinical Cytogenomics Laboratory,Center for Precision Diagnostics, University of Washington	RCV000258805	SCV000328543	pathogenic	See cases	2016-09-20	criteria provided, single submitter	clinical testing	Trisomy 12 present in 25% of cells
Clinical Genetics, Erasmus University Medical Center	RCV000416719	SCV000266743	pathogenic	Abnormality of esophagus morphology	2015-12-15	criteria provided, single submitter	research
Clinical genetics,CHU Grenoble-Alpes	RCV000515131	SCV000609493	pathogenic	Multiple congenital anomalies-hypotonia-seizures syndrome 1	2007-09-17	no assertion criteria provided	clinical testing
Collagen Diagnostic Laboratory,University of Washington	RCV000779626	SCV000854431	pathogenic	Osteogenesis imperfecta type 10	2018-09-23	no assertion criteria provided	clinical testing	The deletion affects a DNase sensitive site in the gene region, and allele expression was shown to be reduced to about 50% of normal activity.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000414385	SCV000490158	pathogenic	Breast-ovarian cancer, familial 2	2015-10-02	criteria provided, single submitter	clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000413848	SCV000490160	pathogenic	Breast-ovarian cancer, familial 1	2015-10-02	criteria provided, single submitter	clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000413941	SCV000490163	pathogenic	Breast-ovarian cancer, familial 1	2015-10-02	criteria provided, single submitter	clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000414056	SCV000490166	pathogenic	Breast-ovarian cancer, familial 1	2015-10-02	criteria provided, single submitter	clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000414677	SCV000490167	pathogenic	Breast-ovarian cancer, familial 1	2015-10-02	criteria provided, single submitter	clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000413276	SCV000490168	pathogenic	Breast-ovarian cancer, familial 1	2015-10-02	criteria provided, single submitter	clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000414143	SCV000490169	pathogenic	Breast-ovarian cancer, familial 1	2015-10-02	criteria provided, single submitter	clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000412747	SCV000490170	pathogenic	Breast-ovarian cancer, familial 1	2015-10-02	criteria provided, single submitter	clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000414007	SCV000490172	pathogenic	Breast-ovarian cancer, familial 1	2015-10-02	criteria provided, single submitter	clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000413482	SCV000490174	pathogenic	Breast-ovarian cancer, familial 1	2015-10-02	criteria provided, single submitter	clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000414360	SCV000490175	pathogenic	Breast-ovarian cancer, familial 1	2015-10-02	criteria provided, single submitter	clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000413209	SCV000490176	pathogenic	Breast-ovarian cancer, familial 1	2015-10-02	criteria provided, single submitter	clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000413580	SCV000490177	pathogenic	Breast-ovarian cancer, familial 1	2015-10-02	criteria provided, single submitter	clinical testing
Counsyl	RCV000496588	SCV000579478	pathogenic	Spinal muscular atrophy, type II; Kugelberg-Welander disease; Werdnig-Hoffmann disease; Spinal muscular atrophy type 4	2016-11-08	criteria provided, single submitter	clinical testing
Counsyl	RCV000499484	SCV000590824	pathogenic	alpha Thalassemia	2015-01-14	criteria provided, single submitter	clinical testing	-Î±3.7 is classified as an alpha+ mutation.
Counsyl	RCV000668947	SCV000793630	uncertain significance	Galactosylceramide beta-galactosidase deficiency	2017-08-25	criteria provided, single submitter	clinical testing
Counsyl	RCV000669077	SCV000793779	uncertain significance	Galactosylceramide beta-galactosidase deficiency	2017-08-30	criteria provided, single submitter	clinical testing
Daryl Scott Lab,Baylor College of Medicine	RCV000681464	SCV000808912	pathogenic	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	2017-09-12	criteria provided, single submitter	clinical testing
Daryl Scott Lab,Baylor College of Medicine	RCV000779600	SCV000914226	pathogenic	Aminoaciduria	2019-05-14	no assertion criteria provided	clinical testing	Aminoaciduria is seen in a 11 years old male with a hemizygous deletion involving the CLTRN gene.
Department of Clinical Genetics,Tartu University Hospital	RCV000768549	SCV000898485	pathogenic	Dihydropteridine reductase deficiency	2019-04-20	criteria provided, single submitter	research
Department of Medical Genetics,Oslo University Hospital	RCV000506461	SCV000605722	likely pathogenic	Breast-ovarian cancer, familial 1	2016-01-25	criteria provided, single submitter	clinical testing	Heterozygous deletion of exon 10 (also known as exon 11)
Department of Medical Sciences,Uppsala University	RCV000490683	SCV000574670	pathogenic	Osteogenesis imperfecta type I		no assertion criteria provided	clinical testing
Department of Molecular Endocrinology,National Research Institute for Child Health and Development	RCV000149431	SCV000190042	pathogenic	Uniparental disomy, paternal, chromosome 14	2010-06-01	no assertion criteria provided	clinical testing
Department of Molecular and Human Genetics, Baylor College of Medicine	RCV000201250	SCV000249607	pathogenic	Autosomal recessive congenital ichthyosis 3		no assertion criteria provided	research
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences	RCV000496984	SCV000328419	pathogenic	Vici syndrome	2016-08-11	no assertion criteria provided	research	Patient, a 2 year-old girl, showed severe developmental delay,hypotonia, hypopigmentation, and high-arched palate. Her last head circumference was 42.5 (-3.4SD). This mutation was confirmed compound geterozygosity.
Department of Psychiatry,Nagoya University	RCV000754118	SCV000777921	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754119	SCV000777922	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754120	SCV000777923	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754121	SCV000777924	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754122	SCV000777925	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754123	SCV000777926	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754124	SCV000777927	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754125	SCV000777928	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754126	SCV000777929	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754127	SCV000777930	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754128	SCV000777931	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754129	SCV000777932	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754130	SCV000777933	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754131	SCV000777934	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754132	SCV000777935	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754133	SCV000777936	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754134	SCV000777937	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754135	SCV000777938	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754136	SCV000777939	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754137	SCV000777940	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754138	SCV000777941	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754139	SCV000777942	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754140	SCV000777943	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754141	SCV000777944	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754142	SCV000777945	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754143	SCV000777946	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754144	SCV000777947	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754145	SCV000777948	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754146	SCV000777949	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754147	SCV000777950	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754148	SCV000777951	pathogenic	Autistic disorder of childhood onset; Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754149	SCV000777952	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754150	SCV000777953	pathogenic	Autistic disorder of childhood onset; Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754151	SCV000777954	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754152	SCV000777955	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754153	SCV000777956	pathogenic	Autistic disorder of childhood onset; Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754154	SCV000777957	pathogenic	Autistic disorder of childhood onset; Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754155	SCV000777958	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754156	SCV000777959	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754157	SCV000777960	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754158	SCV000777961	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754159	SCV000777962	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754160	SCV000777963	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754161	SCV000777964	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754162	SCV000777965	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754163	SCV000777966	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754164	SCV000777967	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754165	SCV000777968	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754166	SCV000777969	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754167	SCV000777970	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754168	SCV000777971	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754169	SCV000777972	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754170	SCV000777973	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754171	SCV000777974	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754172	SCV000777975	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754173	SCV000777976	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754174	SCV000777977	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754175	SCV000777978	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754176	SCV000777979	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754177	SCV000777980	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754178	SCV000777981	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754179	SCV000777982	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754180	SCV000777983	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754181	SCV000777984	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754182	SCV000777985	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754183	SCV000777986	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754184	SCV000777987	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754185	SCV000777988	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754186	SCV000777989	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754187	SCV000777990	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754188	SCV000777991	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754189	SCV000777992	pathogenic	Autistic disorder of childhood onset; Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754190	SCV000777993	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754191	SCV000777994	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754192	SCV000777995	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754193	SCV000777996	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754194	SCV000777997	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754195	SCV000777998	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754196	SCV000777999	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754197	SCV000778000	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754198	SCV000778001	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754199	SCV000778002	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754200	SCV000778003	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754201	SCV000778004	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754202	SCV000778005	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754203	SCV000778006	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754204	SCV000778007	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754205	SCV000778008	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754206	SCV000778009	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754207	SCV000778010	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754208	SCV000778011	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754209	SCV000778012	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754210	SCV000778013	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754211	SCV000778014	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754212	SCV000778015	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754213	SCV000778016	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754214	SCV000778017	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754215	SCV000778018	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754216	SCV000778019	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754217	SCV000778020	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754218	SCV000778021	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754219	SCV000778022	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754220	SCV000778023	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754221	SCV000778024	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754222	SCV000778025	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754223	SCV000778026	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754224	SCV000778027	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754225	SCV000778028	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754226	SCV000778029	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754227	SCV000778030	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754228	SCV000778031	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754229	SCV000778032	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754230	SCV000778033	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754231	SCV000778034	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754232	SCV000778035	pathogenic	Autistic disorder of childhood onset; Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754233	SCV000778036	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754234	SCV000778037	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754235	SCV000778038	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754236	SCV000778039	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754237	SCV000778040	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754238	SCV000778041	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754239	SCV000778042	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754240	SCV000778043	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754241	SCV000778044	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754242	SCV000778045	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754243	SCV000778046	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754244	SCV000778047	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754245	SCV000778048	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754246	SCV000778049	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754247	SCV000778050	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754248	SCV000778051	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754249	SCV000778052	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754250	SCV000778053	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754251	SCV000778054	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754252	SCV000778055	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754253	SCV000778056	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754254	SCV000778057	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754255	SCV000778058	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754256	SCV000778059	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754257	SCV000778060	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754258	SCV000778061	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754259	SCV000778062	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754260	SCV000778063	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754261	SCV000778064	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754262	SCV000778065	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754263	SCV000778066	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754264	SCV000778067	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754265	SCV000778068	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754266	SCV000778069	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754267	SCV000778070	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754268	SCV000778071	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754269	SCV000778072	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754270	SCV000778073	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754271	SCV000778074	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754272	SCV000778075	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754273	SCV000778076	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754274	SCV000778077	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754275	SCV000778078	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754276	SCV000778079	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754277	SCV000778080	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754278	SCV000778081	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754279	SCV000778082	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754280	SCV000778083	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754281	SCV000778084	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754282	SCV000778085	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754283	SCV000778086	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754284	SCV000778087	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754285	SCV000778088	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754286	SCV000778089	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754287	SCV000778090	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754288	SCV000778091	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754289	SCV000778092	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754290	SCV000778093	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754291	SCV000778094	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754292	SCV000778095	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754293	SCV000778096	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754294	SCV000778097	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754295	SCV000778098	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754296	SCV000778099	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754297	SCV000778100	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754298	SCV000778101	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754299	SCV000778102	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754300	SCV000778103	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754301	SCV000778104	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754302	SCV000778105	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754303	SCV000778106	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754304	SCV000778107	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754305	SCV000778108	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754306	SCV000778109	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754307	SCV000778110	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754308	SCV000778111	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754309	SCV000778112	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754310	SCV000778113	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754311	SCV000778114	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754312	SCV000778115	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754313	SCV000778116	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754314	SCV000778117	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754315	SCV000778118	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754316	SCV000778119	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754317	SCV000778120	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754318	SCV000778121	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754319	SCV000778122	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754320	SCV000778123	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754321	SCV000778124	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754322	SCV000778125	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754323	SCV000778126	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754324	SCV000778127	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754325	SCV000778128	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754326	SCV000778129	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754327	SCV000778130	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754328	SCV000778131	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754329	SCV000778132	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754330	SCV000778133	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754331	SCV000778134	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754332	SCV000778135	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754333	SCV000778136	pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754334	SCV000778137	pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754335	SCV000778138	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754336	SCV000778139	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754337	SCV000778140	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754338	SCV000778141	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754339	SCV000778142	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754340	SCV000778143	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754341	SCV000778144	likely pathogenic	Autistic disorder of childhood onset; Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754342	SCV000778145	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754343	SCV000778146	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754344	SCV000778147	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754345	SCV000778148	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754346	SCV000778149	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754347	SCV000778150	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754348	SCV000778151	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754349	SCV000778152	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754350	SCV000778153	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754351	SCV000778154	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754352	SCV000778155	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754353	SCV000778156	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754354	SCV000778157	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754355	SCV000778158	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754356	SCV000778159	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754357	SCV000778160	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754358	SCV000778161	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754359	SCV000778162	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754360	SCV000778163	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754361	SCV000778164	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754362	SCV000778165	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754363	SCV000778166	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754364	SCV000778167	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754365	SCV000778168	pathogenic	Autistic disorder of childhood onset; Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754366	SCV000778169	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754367	SCV000778170	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754368	SCV000778171	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754369	SCV000778172	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754370	SCV000778173	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754371	SCV000778174	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754372	SCV000778175	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754373	SCV000778176	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754374	SCV000778177	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754375	SCV000778178	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754376	SCV000778179	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754377	SCV000778180	likely pathogenic	Schizophrenia	2018-03-20	criteria provided, single submitter	research
Department of Psychiatry,Nagoya University	RCV000754378	SCV000778181	likely pathogenic	Autistic disorder of childhood onset	2018-03-20	criteria provided, single submitter	research
Dept. of Medical Genetics, Telemark Hospital Trust	RCV000170334	SCV000189426	uncertain significance	Charcot-Marie-Tooth disease	2014-10-01	no assertion criteria provided	research
Dept. of Medical Genetics, Telemark Hospital Trust	RCV000170335	SCV000189427	likely pathogenic	Charcot-Marie-Tooth disease	2014-10-01	no assertion criteria provided	research
Dept. of Medical Genetics, Telemark Hospital Trust	RCV000170336	SCV000189428	uncertain significance	Charcot-Marie-Tooth disease	2014-10-01	no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171448	SCV000221646	likely pathogenic	not provided		no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171455	SCV000221654	likely pathogenic	not provided		no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171473	SCV000221672	likely pathogenic	not provided		no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171474	SCV000221673	likely pathogenic	not provided		no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171479	SCV000221678	likely pathogenic	not provided		no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171483	SCV000221682	likely pathogenic	not provided		no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171488	SCV000221687	likely pathogenic	not provided		no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171489	SCV000221688	likely pathogenic	not provided		no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171500	SCV000221699	likely pathogenic	not provided		no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171506	SCV000221705	likely pathogenic	not provided		no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171508	SCV000221707	likely pathogenic	not provided		no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171511	SCV000221710	likely pathogenic	not provided		no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171512	SCV000221711	likely pathogenic	not provided		no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171535	SCV000221734	likely pathogenic	not provided		no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171536	SCV000221735	likely pathogenic	not provided		no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171540	SCV000221739	likely pathogenic	not provided		no assertion criteria provided	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000171541	SCV000221740	likely pathogenic	not provided		criteria provided, single submitter	research
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	RCV000256451	SCV000322783	pathogenic	Bardet-Biedl syndrome		no assertion criteria provided	research
Dobyns Lab,Seattle Children's Research Institute	RCV000191932	SCV000246158	pathogenic	Poretti-Boltshauser syndrome	2014-11-25	criteria provided, single submitter	research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000273531	SCV000335444	uncertain significance	not provided	2015-09-15	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000337319	SCV000336997	likely pathogenic	not provided	2015-10-26	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000349357	SCV000340741	uncertain significance	not provided	2016-04-15	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000299738	SCV000341602	uncertain significance	not provided	2016-05-09	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000340414	SCV000343758	uncertain significance	not provided	2016-07-12	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000677239	SCV000678240	pathogenic	not provided	2017-12-01	no assertion criteria provided	clinical testing	This variant was identified in a male proband with clinical features associated with PGK deficiency-related myopathy. Biochemical testing on muscle biopsy showed decreased PGK enzyme activity (18% of reference). RNA analysis showed reduced PGK1 transcript levels (~30% compared with control) in both the proband and a similarly affected brother.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000730072	SCV000857783	uncertain significance	not provided	2017-10-24	criteria provided, single submitter	clinical testing
Elsea Laboratory,Baylor College of Medicine	RCV000455872	SCV000264470	pathogenic	MBD5 associated neurodevelopmental disorder	2012-10-01	criteria provided, single submitter	research
Elsea Laboratory,Baylor College of Medicine	RCV000454803	SCV000264471	pathogenic	MBD5 associated neurodevelopmental disorder	2012-10-01	criteria provided, single submitter	research
Elsea Laboratory,Baylor College of Medicine	RCV000455222	SCV000264472	pathogenic	MBD5 associated neurodevelopmental disorder	2012-10-01	criteria provided, single submitter	research
Elsea Laboratory,Baylor College of Medicine	RCV000455812	SCV000264473	pathogenic	MBD5 associated neurodevelopmental disorder	2012-10-01	criteria provided, single submitter	research
Elsea Laboratory,Baylor College of Medicine	RCV000454759	SCV000264474	pathogenic	MBD5 associated neurodevelopmental disorder	2012-10-01	criteria provided, single submitter	research
Elsea Laboratory,Baylor College of Medicine	RCV000477897	SCV000264477	pathogenic	MBD5 associated neurodevelopmental disorder	2012-10-01	criteria provided, single submitter	research
Elsea Laboratory,Baylor College of Medicine	RCV000454618	SCV000264478	pathogenic	MBD5 associated neurodevelopmental disorder	2012-10-01	criteria provided, single submitter	research
Elsea Laboratory,Baylor College of Medicine	RCV000477751	SCV000264479	pathogenic	MBD5 associated neurodevelopmental disorder	2012-10-01	criteria provided, single submitter	research
Elsea Laboratory,Baylor College of Medicine	RCV000455254	SCV000264480	pathogenic	MBD5 associated neurodevelopmental disorder	2012-10-01	criteria provided, single submitter	research
Emory University School of Medicine, Department of Human Genetics,Emory University	RCV000664328	SCV000599234	pathogenic	Inclusion body myositis; GNE myopathy	2017-09-06	criteria provided, single submitter	clinical testing	Heterozygoous 7.082 kb deletion variant encompassing untranslated exon 2 of GNE gene abolishes respective allele expression. Factors considered in the assessment. * RNA-sequencing using target muscle biopsy showing complete abolishment of the respective allele with confirmation by cDNA sequencing. * Gene expression analysis from RNA-seq transcript abundance data shows ~50% reduction in expression of GNE gene. * Patient harboring the variant show clinical phenotype resembling unusual GNE myopathy with inflammation.
Endocrinology Clinic, Seth G.S. Medical College	RCV000050247	SCV000082856	pathogenic	Isolated growth hormone deficiency type 1B	2013-04-22	no assertion criteria provided	case-control	Converted during submission to Pathogenic.
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne	RCV000627115	SCV000747919	likely pathogenic	Autistic behavior; Severe global developmental delay	2012-12-17	criteria provided, single submitter	clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne	RCV000627116	SCV000747920	likely pathogenic	Autistic behavior; Severe global developmental delay	2017-04-30	criteria provided, single submitter	clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne	RCV000627117	SCV000747921	likely pathogenic	Autistic behavior; Moderate global developmental delay	2017-05-27	criteria provided, single submitter	clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne	RCV000824954	SCV000965989	pathogenic	Intellectual disability, severe	2016-01-01	criteria provided, single submitter	clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne	RCV000824955	SCV000965990	likely pathogenic	Pitt-Hopkins syndrome	2016-01-01	criteria provided, single submitter	clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne	RCV000824956	SCV000965991	pathogenic	Ceroid lipofuscinosis neuronal 1	2016-01-01	criteria provided, single submitter	clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne	RCV000824957	SCV000965998	pathogenic	Marfan syndrome	2016-01-01	criteria provided, single submitter	clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne	RCV000824958	SCV000965999	pathogenic	Juvenile neuronal ceroid lipofuscinosis	2015-01-01	criteria provided, single submitter	clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne	RCV000825024	SCV000966219	pathogenic	Leptin receptor deficiency	2018-07-17	criteria provided, single submitter	clinical testing	Observed as a homozygote.
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne	RCV000825025	SCV000966220	pathogenic	Chromosome 9q deletion syndrome	2018-10-17	criteria provided, single submitter	clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne	RCV000825026	SCV000966221	pathogenic	Chromosome 15q11-q13 duplication syndrome	2018-10-16	criteria provided, single submitter	clinical testing
Flegel Lab,National Institutes of Health	RCV000495883	SCV000583609	pathogenic	RHD DEL	2017-05-30	no assertion criteria provided	clinical testing
Flegel Lab,National Institutes of Health	RCV000495911	SCV000583610	pathogenic	RHD DEL	2017-05-30	no assertion criteria provided	clinical testing
Flegel Lab,National Institutes of Health	RCV000495861	SCV000583611	pathogenic	RhD negative	2017-05-30	no assertion criteria provided	clinical testing
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677156	SCV000803316	pathogenic	Juvenile polyposis syndrome	2017-05-01	criteria provided, single submitter	provider interpretation	This deletion was identified in an 8 year old male with autism spectrum disorder and intellectual disability. The patient has not yet had a colonoscopy or endoscopy but is scheduled to begin that surveillance at age 15. His cardiac evaluation was normal.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677908	SCV000804063	likely pathogenic	Cystinuria	2016-06-16	criteria provided, single submitter	provider interpretation	This deletion was identified in a 6 year old female with developmental delays, microcephaly, craniosynostosis, hypertrophic cardiomyopathy, and history of acute lymphoid leukemia in remission. This deletion was inherited from a mother with a history of a kidney stone and the maternal grandfather is reported to have multiple kidney stones. Follow up testing for the proband showed elevated urine amino acids. This result indicates carrier status for cystinuria, at minimum. Additionally, 3 variants of uncertain significance were identified by exome sequencing.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677913	SCV000804068	uncertain significance	not provided	2018-02-05	criteria provided, single submitter	provider interpretation	This deletion was identified in a 5 year old female with autism spectrum disorder, global developmental delays, hyperkinesis, ADHD, feeding problems, sleep problems, and wide spaced teeth. The deletion was inherited from a father with ADHD and bipolar disorder. Follow up ophthalmological exam was normal and the father has normal vision. This history supports the putative PAX6 downstream regulatory region proposed by Balay et al, 2015 (PMID:26419218), which is not included in this patient's deletion region. It is not clear whether this deletion is related to the patient neurodevelopmental history.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677914	SCV000804069	uncertain significance	not provided	2018-04-03	criteria provided, single submitter	provider interpretation	This deletion was identified in a 20 year old male with autism spectrum disorder, sleep disturbance, mood disorder, anxiety, macrocephaly, a vocal tic, and obesity. He has astigmatism, eczema, and a history of frequent epistaxis. There is no paternal history of neurodevelopmental disorders.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677915	SCV000804070	likely benign	not provided	2018-04-05	criteria provided, single submitter	provider interpretation	This deletion was identified in a 7 year old male with a history of global developmental delay (intellectual ability are uncertain) and superimposed expressive language delay. He has echolalia and will point in a protoimperative and protodeclarative manner. He is making progress with expressing emotions and will follow a familiar two-step command. He was found to have a pathogenic 8.2 Mb duplication of 18p11.32p11.22 by microarray.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677922	SCV000804077	likely pathogenic	Mental retardation, autosomal dominant 18	2018-02-05	criteria provided, single submitter	provider interpretation	This deletion was identified in a 4 year old female with global developmental delays, macrocephaly, telecanthus, and a wide based gait. It was found to be de novo and likely impacts expression of the GATAD2B gene due to loss of regulatory region. Clinical correlation with previously reported patients with GATAD2B-related disorder was thought to be very good. In addition, this patient has a paternally-inherited, likely benign duplication at 4q22.3.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677926	SCV000804081	pathogenic	not provided	2018-04-05	criteria provided, single submitter	provider interpretation	This duplication was identified in a 4 year old female with global developmental delays, hearing impairment, sleep problems, short stature, esotropia, chronic constipation, anemia, and small PFO. Renal ultrasound was normal. Notable facial features include a long, narrow face, upslanting palpebral fissures, infraorbital creases, bulbous nasal tip, anteverted nares, and mild retrognathia. This patient also has a pathogenic 39 Mb terminal deletion of Xp22.3p11.2. These copy number variants are a result of a de novo rearrangement: 46,X,der(X)t(X;15)(p11.4;q11.2).
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677927	SCV000804082	pathogenic	not provided	2018-04-05	criteria provided, single submitter	provider interpretation	This deletion was identified in a 4 year old female with global developmental delays, hearing impairment, sleep problems, short stature, esotropia, chronic constipation, anemia, and small PFO. Renal ultrasound was normal. Notable facial features include a long, narrow face, upslanting palpebral fissures, infraorbital creases, bulbous nasal tip, anteverted nares, and mild retrognathia. This patient also has a pathogenic 71 Mb terminal duplication of 15q13.2q26.3. These copy number variants are a result of a de novo rearrangement: 46,X,der(X)t(X;15)(p11.4;q11.2).
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677929	SCV000804084	uncertain significance	not provided	2017-06-12	criteria provided, single submitter	provider interpretation	This duplication was identified in a 3 year old female with develomental delays. She is non-dysmorphic and has a strong maternal family history of psychiatric disorders, seizures, and intellectual disability. Paternal history is unknown. Parental samples were not available for testing. Additionally, a variant of uncertain significance was identified by whole exome sequencing.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677930	SCV000804085	uncertain significance	not provided	2017-08-03	criteria provided, single submitter	provider interpretation	This deletion was identified in a 3 year old male with global developmental delay, expressive language disorder, mild hypotonia, short stature, dolichocephaly, laterally arched eyebrows, epicanthal folds, bulbous nasal tip, bowed upper lip, small toes, sleep disorder, and a history of prematurity. It was inherited from an unaffected mother. It is also a fairly gene-poor region. Additionally, whole exome sequencing identified a de novo, likely pathogenic sequence variant which most likely explains this patient's clinical history.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677931	SCV000804086	pathogenic	Becker muscular dystrophy	2017-05-16	criteria provided, single submitter	provider interpretation	This deletion was identified in a 10 year old male with mild intellectual disability, ADHD, oppositional-defiant disorder, and a history of gastroschisis. Muscle tone and strength appeared normal on exam and there were no gait abnormalities. CK levels, taken after identification of DMD deletion, were significantly elevated (2287).
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677932	SCV000804087	pathogenic	not provided	2017-10-31	criteria provided, single submitter	provider interpretation	This deletion was identified in a 4 year old female with autism spectrum disorder, global developmental delay, and mild hypotonia. She walked at age 2 but currently there are no motor concerns. She has significant language delay with no spoken words, does not point to request, and appears to understand only a few words (receptive age equivalent 10 months). She is slightly short (5th percentile). She has a long philtrum but is otherwise non-dysmorphic.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677933	SCV000804088	uncertain significance	not provided	2018-03-29	criteria provided, single submitter	provider interpretation	This deletion was identified in a 6 year old male with autism spectrum disorder, disruptive behavior, hyperactivity, persistent insomnia, coordination disorder, and cyclic vomiting syndrome. Only a maternal sample was available for testing, and the patient's mother does not carry the deletion. Of note, this patient also carries a variant of uncertain significance in the ADCY5 gene.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677934	SCV000804089	pathogenic	Schizophrenia 17	2017-07-29	criteria provided, single submitter	provider interpretation	This deletion was identified in a 5 year old male with mild intellectual disability, ADHD, mild phonological disorder, and disruptive behavior disorder. Parental testing was not completed. There is an extensive family history of substance abuse, psychiatric diagnoses, and learning disabilities. Two additional copy number variants were also identified in this patient, one likely pathogenic and one of uncertain significance.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677935	SCV000804090	likely pathogenic	Spinocerebellar ataxia 27	2017-07-29	criteria provided, single submitter	provider interpretation	This deletion was identified in a 5 year old male with mild intellectual disability, ADHD, mild phonological disorder, and disruptive behavior disorder. Parental testing was not completed. There is no family history of movement disorders. The patient does not currently show any signs of tremor, dyskinesia, or ataxia. He is described by his family as more uncoordinated than his peers. There are reports of individuals with FGF14-related cerebellar ataxia not presenting with motor abnormalities until later in childhood, so the patient will continue to be monitored. Two additional copy number variants were also identified in this patient, one that is pathogenic and one of uncertain significance.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677938	SCV000804093	pathogenic	Deafness, autosomal recessive 16	2018-03-29	criteria provided, single submitter	provider interpretation	This deletion was identified in a 3 year old female with bilateral sensorineural hearing loss, mixed receptive-expressive language disorder, mild visual-motor delay, mild hypotonia, and gross motor delay. While parental studies have not been done, both of the patient's sisters are homozygous for the same 15q15.3 deletion and both have hearing impairments, suggesting that the parents are each a carrier of the deletion.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677940	SCV000804095	likely pathogenic	Nemaline myopathy 6	2018-04-12	criteria provided, single submitter	provider interpretation	This deletion was identified in a 12 year old male with autism spectrum disorder, history of right talipes equinovarus, and leg length discrepancy. Parental studies (targeted microarray and FISH analysis) revealed that this deletion arose de novo.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677942	SCV000804097	pathogenic	not provided	2018-04-15	criteria provided, single submitter	provider interpretation	This duplication was identified in a 5 year old female with global developmental delays, short stature, basiocciput hyperplasia and associated basilar invagination, and an arachnoid cyst. Parental studies were performed, and the duplication was found to be de novo.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677947	SCV000804102	uncertain significance	not provided	2017-01-10	criteria provided, single submitter	provider interpretation	This deletion was identified in a 6 year old male with intellectual disability and motor stereotypies. The deletion was found to be maternailly-inherited; the patient's mother is unaffected. The deletion encompasses the non-coding exon 1 of RBFOX1. Haploinsuffiency of RBFOX1 has been implicated in several neurodevelopmental phenotypes, and some deletions have been inherited from a phenotypically normal parent. Of note, this patient also carries a paternally-inherited VUS in the SHANK2 gene.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677949	SCV000804104	uncertain significance	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	2017-03-23	criteria provided, single submitter	provider interpretation	This duplication was identified in a 7 year old male with autism spectrum disorder. The duplication was maternally inherited, and his mother does not have a history of hearing impairment or learning disabilities. She does have a history of kidney stones; loss of function variants in AMMECR1, which is within this duplicated region, are associated with nephrocalcinosis. The patient does not have a history of any kidney concerns. Of note, the patient's whole exome sequencing has thus far been normal.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677950	SCV000804105	uncertain significance	not provided	2017-06-13	criteria provided, single submitter	provider interpretation	This duplication was identified in a 4 year old male with autism spectrum disorder and global developmental delays. The duplication was maternally inherited, and this individual's mother does not have a history of neurodevelopmental disorders.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677957	SCV000804112	uncertain significance	not provided	2017-06-08	criteria provided, single submitter	provider interpretation	This deletion was identified in a 16 year old male with intellectual disability and growth failure. Of note, this patient also carries a de novo likely pathogenic variant in the ZNF711 gene, which is felt to explain his intellectual disability. The patient's mother is unaffected.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677958	SCV000804113	pathogenic	Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2	2017-04-25	criteria provided, single submitter	provider interpretation	This deletion was identified in a 13 year old female with borderline intellectual disability, motor coordination disorder, ADHD, skull anomalies, history of neonatal seizure, and amblyopia. The patient's biological parents are unavailable for parental studies. There is no known family history of parathyroid cancer or thyroid disease. Of note, the patient also carries a pathogenic deletion at 16p11.2.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677961	SCV000804116	uncertain significance	not provided	2017-05-19	criteria provided, single submitter	provider interpretation	This deletion was identified in an 11 year old male with left hemiplegia, mild intellectual disability, seizure disorder, and hypothyroidism. Parental samples are unavailable, so inheritance is unknown.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677972	SCV000804127	uncertain significance	not provided	2017-10-07	criteria provided, single submitter	provider interpretation	This 758 kilobase deletion includes four genes - BEND3, PDSS2, SOBP, and SCML4. PDSS2 is associated with primary coenzyme Q10 deficiency -3 (OMIM 614652) and SOBP is associated with intellectual disability, anterior maxillary protrusion and strabismus (OMIM 613671). Smaller overlapping deletions have been reported in DECIPHER, including in an individual with global developmental delay, macrocephaly, and abnormality of the philtrum who was large for gestational age (Case 262370) and an individual with a de novo deletion with a history of autism spectrum disorder, delayed speech and language, intellectual disability, microcephaly, and ventricular septal defect (Case 254740). The deletion in our patient was found to be maternally inherited. The patient's mother reportedly had difficulty in reading and math but did not require additional learning supports. The patient also underwent clinical whole exome sequencing that was negative.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677979	SCV000804134	uncertain significance	not provided	2018-03-19	criteria provided, single submitter	provider interpretation	This 82 kilobase duplication was identified in a patient with a history of autism spectrum disorder and global developmental delay. The duplication includes only the NDP gene. Loss of function of the NDP is associated with Norrie disease and exudative vitreoretinopathy, features of which include blindness in infancy, progressive hearing loss, developmental delays, intellectual disability, and psychosis. Females may rarely have some clinical manifestations. The impact of duplications of the NDP gene are unclear. This region is not known to vary in the general population. The patient's mother was found to carry this same duplication.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677983	SCV000804138	uncertain significance	not provided	2018-03-22	criteria provided, single submitter	provider interpretation	This 804 kilobase deletion was identified in a patient with speech delay , hypotonia, disruptive behaviors, learning disorder and dysmorphic features. The deletion includes seven genes, none of which have been associated with clinical disorders. The deletion was not identified in the patient's mother. His father has not undergone testing to date.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677985	SCV000804140	likely pathogenic	Dilated cardiomyopathy 1G	2017-12-04	criteria provided, single submitter	provider interpretation	This deletion was identified in a patient with a history of intellectual disability, autism spectrum disorder, and insomnia. A mitochondrial disorder has previously been suspected. The deletion includes a portion of the TTN and PLEKHA3 genes. PLEKHA3 has not been associated with a known condition at this time. TTN, however, is expressed in the skeletal and cardiac muscles and has been associated with several conditions including isolated cardiomyopathies, limb-girdle muscular dystrophy, proximal myopathy with early respiratory involvement, Salih myopathy, and Tibial muscular dystrophy. The deletion includes exons 229-313 of the TTN gene. This deletion includes the A and M bands of the protein and this particular deletion has not been reported previously. Deletions and loss of function variants in TTN that impact the A and M bands, such as the deletion found in this patient, are associated with isolated cardiomyopathies. 18-25% of dilated cardiomyopathies have been associated with such TTN variants. Deletions such as this have also been detected in healthy individuals (Herman et al. 2012). This could be due to reduced penetrance, however. The variant was also detected in the patient's mother who does not have a reported history of cardiomyopathy.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677986	SCV000804141	likely pathogenic	not provided	2017-07-28	criteria provided, single submitter	provider interpretation	This 0.4 kilobase deletion was identified in a patient with autism spectrum disorder. The deletion includes exon 4 of the NRXN1 gene. Variants in the NRXN1 gene, including intragenic copy number variants, have been associated with variable neurodevelopmental diagnoses including autism spectrum disorders, intellectual disability, epilepsy, and schizophrenia. The features are variable from individual to individual. 2p16.3 deletions and variants in the NRXN1 gene have also been reported in healthy controls and unaffected parents of individuals with neuropsychiatric disorders indicating reduced penetrance or variable expressivity (Schaaf et al. 2012; Bena et al. 2013).
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677987	SCV000804142	uncertain significance	not provided	2018-02-01	criteria provided, single submitter	provider interpretation	This 468 kilobase deletion was identified in a male with a history of mild intellectual disability and autism spectrum disorder. The deletion includes four genes, two of which (FANF and ANO5) are associated with a clinical disorder via autosomal recessive or dominant negative mechanisms.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677990	SCV000804145	uncertain significance	not provided	2018-03-22	criteria provided, single submitter	provider interpretation	This 98 kilobase duplication was identified in a patient with a history of learning disability, large stature, and overgrowth. The duplication includes ANKRD11 and SPG7 genes. These genes are associated with autosomal dominant KBG syndrome and spastic paraplegia type 7, respectively, but the effect of a duplication involving these genes is unclear. Copy number variation in this region has been reported in the general population. The duplication was detected in the patient's mother who does not have a reported history of neurodevelopmental concerns and is of typical stature. Additional genetic testing, including whole exome sequencing, has been performed and has not yieled an explanation for the patient's phenotype.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677995	SCV000804150	uncertain significance	not provided	2018-03-27	criteria provided, single submitter	provider interpretation	This 1.6 Mb deletion was identified in a 16 year old male with a history of migraines, autism spectrum disoder, and anxiety. Maternal inheritance has been ruled out, but paternal testing has not been completed to date. A pathogenic 16p11.2 duplication was also identified in this patient.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000677996	SCV000804151	uncertain significance	not provided	2018-04-03	criteria provided, single submitter	provider interpretation	This 41 kilobase deletion was identified in a 15 year old with a history of mild intellectual disability, speech and language disorder, and ADHD. The deletion includes a portion of the TPRX1 gene and the entire CRX gene. Deletions and loss of function variants in CRX have been associated with Leber congenital amaurosis 7, cone-rod dystrophy 2, and late-onset retinitis pigmentosa. Aside from a history of strabismus, the patient does not have a history of vision concerns. This deletion was determined to be maternally inherited. The patient's mother does not have a reported history of vision concerns.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000678000	SCV000804155	uncertain significance	Mitochondrial complex I deficiency	2018-03-28	criteria provided, single submitter	provider interpretation	This deletion was identified in a 6 year old female with microcephaly, history of developmental delays, Duane's syndrome, and alopecia. Parental testing was not completed. This deletion includes 10 genes including, STRN3, CPR33, ARGHAP5, NUBPL, and APA4S1. NUBPL sequencing and del/dup was negative for any additional changes in this gene. Individuals with deletions of NUBPL are typically asymptomatic carriers for complex 1 defiencicy. The clinical significance of this deletion is unknown.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000678004	SCV000804159	uncertain significance	Autistic disorder of childhood onset	2018-03-28	criteria provided, single submitter	provider interpretation	This deletion was identified in a 13 year old male with autism spectrum disorder, intellectual disability, bipolar disorder, conduct disorder, periventricular leukomalacia, and asthma. Parental testing was not completed. This deletion includes a portion of CNTN4. Disruptions of CNTN4 have been reported in individuals with autism spectrum disorders, individuals with 3p- syndrome, and unaffected parents. It is not clear whether this deletion is related to the patient's neurodevelopmental history.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000678005	SCV000804160	likely pathogenic	Parkinson disease 2	2018-03-01	criteria provided, single submitter	provider interpretation	This deletion was identified in a 3 year old male with bilateral intra-abdominal testicle, hypertelorism, conductive hearing loss, exotropia, global developmental delay, echogenic kidneys, abnormality of gait, and hyperkinesis. Parental testing was not completed. This deletion includes a portion of PARK2. Individuals with deletions of PARK2 are typically asymptomatic carriers for juvenile onset Parkinson Disease. There is a maternal family history of Parkinson Disease that onset before 30 years of age. This deletion does not explain the findings in this patient.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000678010	SCV000804165	uncertain significance	Autistic disorder of childhood onset	2018-03-30	criteria provided, single submitter	provider interpretation	This deletion was identified in a 7 year old male with developmental speech disorder, disruptive behavior disorder, hypermetropia, constipation, ADHD, dysmorphic features, and a history of failure to thrive. Parental testing was not completed. This deletion includes a portion of CNTN4 and is within the larger distal 3p deletion syndrome region. CNTN4 is a candidate gene for autism spectrum disorders. The clinical significance of this deletion remains unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000678011	SCV000804166	uncertain significance	Acrodysostosis 2, with or without hormone resistance	2018-03-30	criteria provided, single submitter	provider interpretation	This deletion was identified in a 10 year old male with autism spectrum disorder, macrocephaly, some hyperpigmented patches, some joint hypermobility, and anxiety. This deletion was also identified in the proband's twin brother who is similarly affected, but parental testing was not completed. This deletion includes three genes, including PDE4D , and is within the region for the much larger 5q12.1 deletion syndrome. The clinical significance of a deletion of these genes is not currently known.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000678013	SCV000804168	pathogenic	Breast-ovarian cancer, familial 1	2018-03-30	criteria provided, single submitter	provider interpretation	This deletion was identified in a 4 year old male with global developmental delays, macrocephaly, and craniosynostosis. Parental testing was not completed and there was a strong maternal family history of breast and ovarian cancer. This deletion includes BRCA2 and explains this family history, but is likely non-contributory to the proband's medical and developmental history.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000678015	SCV000804170	pathogenic	Mental retardation, autosomal recessive 7	2018-03-30	criteria provided, single submitter	provider interpretation	This homozygous deletion was identified in a 6 year old male with global developmental delays, short stature, chiari malformation type I, exotropia, and microcephaly. Microarray showed 5-6% homozygosity. Analysis of a maternal sample confirmed she is a heterozygous carrier for this deletion. This deletion includes at least exons 2-6 of TUSC3, which is associated with an autosomal recessive form of intellectual disability. This deletion explains the neurodevelopmental phenotype of this patient.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000678017	SCV000804172	uncertain significance	not provided	2018-03-30	criteria provided, single submitter	provider interpretation	This deletion was identified in a 19 year old female with mild intellectual disability, ADHD, anxiety, and hyperphagia, and was found to be de novo. This patient has had normal whole exome sequencing. This deletion includes no genes that are associated with a known clinical phenotype at present. It is unclear at this time if this deletion is related to the patient's neurodevelopmental history.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000678019	SCV000804174	uncertain significance	not provided	2018-03-30	criteria provided, single submitter	provider interpretation	This deletion was identified in a 8 year old male with autism spectrum disorder, ADHD, and obesity. Parental testing was not completed. This deletion contains the non-coding exon 1 of RBFOX1. Deletions within RBFOX1 have conflicting reports of clinical significance ranging from causing epilepsy and autism spectrum disorders to being normal variation. The clinical significance of the deletion of a portion of this gene is remains unclear.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000678020	SCV000804175	uncertain significance	not provided	2018-04-02	criteria provided, single submitter	provider interpretation	This deletion was identified in a 18 year old female with autism spectrum disorder, intellectual disability, disruptive behavior disorder, and irritability. Parental testing was not completed. This deletion includes a portion of HIPK2, which is not currently associated with any genetic disorders. This individual also has a maternally inherited 15p11.2 deletion that fits with the recurrent microdeletion syndrome. It is unclear at this time if this 7q34 deletion contributes to this patient's neurodevelopmental history.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000678021	SCV000804176	pathogenic	not provided	2018-04-02	criteria provided, single submitter	provider interpretation	This deletion was identified in a 16 year old male with intellectual disability, seizure disorder, irritability, submucosal cleft palate, microcephaly, short stature, sleep disturbances, and Emery-Driefuss muscular dystrophy. Parental testing was not completed. This region contains at least 36 genes and was also identified on a karyotype. A 16p13.11 intragenic deletion of ABCC6 was also identified through array and a FHL1 likely pathogenic variant identified through a HCM gene panel. Due to its size, this deletion is believed to explain this patient's neurodevelopmental history in combination with his FHL1 mutation.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000678023	SCV000804178	pathogenic	Pitt-Hopkins-like syndrome 2	2018-04-12	criteria provided, single submitter	provider interpretation	This deletion was identified in a 17 year old male with autism spectrum disorder, intellectual disability, ADHD, aggression, constipation, and weight loss. Parental testing was not completed. This deletion includes a portion of NRXN1, and similar other deletions are have been reported in individuals with autism, intellectual disability, ADHD, schizophrenia, and/or seizures. Biallelic mutations in NRXN1 are associated with Pitt-Hopkins-like syndrome 2. Of note this patient does not have hyperbreathing, developmental regression, or facial dysmorphism. This deletion appears to explain the patient's medical history.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000678027	SCV000804182	uncertain significance	Charcot-Marie-Tooth disease type 2K	2018-04-13	criteria provided, single submitter	provider interpretation	This deletion was identified in a 3 year old female with receptive-expressive language disorder, premature birth, hypotonia, poor feeding, posteriorly rotated ears, and up-slanting palpebral fissures, and is maternally inherited. This deletion includes six genes, including TMEM70, GDAP1, and JPH1. Individuals with single variants in TMEM70 are typically asymptomatic carriers for mitochondrial complex V deficiency. GADP1 and JPH1 have been described to cause an autosomal dominant Charcot-Marie-Tooth disease type 2K with muscle weakness and atrophy. Patient's mother reportedly has similar facial features and short stature, though no muscle concerns reported. The clinical significance of this deletion remains unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000678028	SCV000804183	uncertain significance	not provided	2018-04-13	criteria provided, single submitter	provider interpretation	This deletion was identified in a 7 year old female with short stature, macrocephaly, intellectual disability, global developmental delays, dysmorphic features (midface hypoplasia, high forehead, periorbital fullness, thick eyebrows, broad nasal root, low nasal bridge, up-turned nasal tip, short philtrum, full lips, wide mouth, pointed chin), decreased motor strength, joint hyperflexibility, increased lordosis, hyperextensible joints, flat feet, and was found to be maternally inherited. This patient's mother has anxiety, asthma, required learning supports, and had a heart murmur. Mother and maternal grandmother reportedly had a history of infertility. This deleted region contains three genes (RPS6KC1, VASH2, ANGEL2) that are not associated with any known clinical disorders. The clinical significance of this deletion remains unclear at this time. A second maternally-inherited variant was identified through chromosomal microarray, a 10q23.1 duplication of uncertain significance.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System	RCV000678034	SCV000804189	pathogenic	Spinocerebellar ataxia 15	2018-04-16	criteria provided, single submitter	provider interpretation	This deletion was identified in a 4 year old male with global developmental delays, seizures, hypermetropia of both eyes, amblyopia of right eye, hemangioma, dysmorphic features (triangular facies, broad forehead, prominent crus, almond shaped eyes, thick eyebrows, hypoplastic alae, prominent nasal tip, thin lips, narrow palate, pointed chin, decreased motor strength), partial agenesis of the corpus callosum, and prenatal exposure to cigarettes. Parental testing was not completed for the patient's father and the patient's mother tested negative. This deletion contains two genes SUMF1 and SETMAR, and a portion of ITPR1. Heterozygous carriers of SUMF1 variants are most often asymptomatic carriers for multiple sulfatase deficiency. Deletions of ITPF1 have been shown to cause spinocerebellar ataxia type 15. Microarray also identified a likely pathogenic duplication at 13q13.3.
GeneDx	RCV000197797	SCV000252071	likely benign	not specified	2012-12-04	criteria provided, single submitter	clinical testing	The variant is found in MITONUC-MITOP panel(s).
GeneDx	RCV000199743	SCV000252072	likely benign	not specified	2013-05-05	criteria provided, single submitter	clinical testing	The variant is found in MITONUC-MITOP panel(s).
GeneDx	RCV000199963	SCV000252075	uncertain significance	not specified	2014-10-20	criteria provided, single submitter	clinical testing	The L169V variant of unknown significance has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The L169V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids similar to Leucine are conserved across species. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
GeneDx	RCV000603650	SCV000719684	likely benign	not specified	2017-05-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
GeneReviews	RCV000192065	SCV000211936	pathogenic	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	2014-10-16	no assertion criteria provided	literature only
GeneReviews	RCV000192286	SCV000243795	pathogenic	Dent disease 1	2014-09-25	no assertion criteria provided	literature only
GeneReviews	RCV000192287	SCV000243796	pathogenic	Hypophosphatemic rickets, X-linked recessive	2014-09-25	no assertion criteria provided	literature only
GeneReviews	RCV000192288	SCV000243799	pathogenic	Lowe syndrome	2014-09-25	no assertion criteria provided	literature only
GeneReviews	RCV000192290	SCV000243801	pathogenic	Lowe syndrome	2014-09-25	no assertion criteria provided	literature only
GeneReviews	RCV000191989	SCV000246252	pathogenic	Vitamin B2 deficiency	2015-03-17	no assertion criteria provided	literature only
GeneReviews	RCV000208785	SCV000264778	pathogenic	Chromosome 17q12 duplication syndrome	2015-12-16	no assertion criteria provided	literature only
GeneReviews	RCV000225363	SCV000282239	pathogenic	Chromosome 15q11-q13 duplication syndrome	2016-03-02	no assertion criteria provided	literature only
GeneReviews	RCV000239455	SCV000297825	pathogenic	Deafness, autosomal recessive 1A	2016-08-18	no assertion criteria provided	literature only
GeneReviews	RCV000417218	SCV000503062	pathogenic	alpha Thalassemia	2016-12-29	no assertion criteria provided	literature only
Genetic Diseases Diagnostic Center,Koc University Hospital	RCV000786064	SCV000864395	likely pathogenic	Familial hypokalemia-hypomagnesemia	2018-12-18	no assertion criteria provided	clinical testing
Genetics - Viapath,Viapath, Guy's Hospital	RCV000722071	SCV000845782	pathogenic	Split-Hand/Foot Malformation	2018-10-31	criteria provided, single submitter	clinical testing	Duplications of this region are associated with split hand/foot malformation 3.
Genome Sciences Centre,British Columbia Cancer Agency	RCV000585807	SCV000693715	likely pathogenic	Pediatric metastatic thyroid tumour	2018-01-19	no assertion criteria provided	research
GenomeConnect, ClinGen	RCV000509121	SCV000607078	not provided	not provided		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000509506	SCV000607109	not provided	Mental retardation-hypotonic facies syndrome X-linked, 1		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000509527	SCV000607376	not provided	not provided		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844896	SCV000986699	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as benign and reported on 12/30/2017 by GTR ID Perkin Elmer. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844897	SCV000986700	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as benign and reported on 12/30/2017 by GTR ID Perkin Elmer. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844899	SCV000986705	not provided	Tatton-Brown-rahman syndrome		no assertion provided	phenotyping only	Variant interpretted as pathogenic and reported on 05/10/2017 by GTR ID Lineagen, Inc. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844900	SCV000986706	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 05/10/2017 by GTR ID Lineagen, Inc. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844901	SCV000986707	not provided	1q21.1 recurrent microdeletion		no assertion provided	phenotyping only	Variant interpretted as pathogenic and reported on 04/12/2013 by GTR ID Integrated Genetics. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844902	SCV000986708	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 04/12/2013 by GTR ID Integrated Genetics. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844925	SCV000986740	not provided	Chromosome 16p13.3 deletion syndrome, proximal		no assertion provided	phenotyping only	Variant interpretted as pathogenic and reported on 12/04/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844927	SCV000986742	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as pathogenic and reported on 02/16/2018 by GTR ID 500068. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844933	SCV000986749	not provided	Chromosome 2q23.1 deletion syndrome		no assertion provided	phenotyping only	Variant interpretted as pathogenic and reported on 01/12/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844956	SCV000986781	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as Likely pathogenic and reported on 02/28/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844961	SCV000986786	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as pathogenic and reported on 05/09/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844963	SCV000986788	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 02/07/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844964	SCV000986789	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 05/08/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844966	SCV000986791	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 05/25/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844974	SCV000986800	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 06/29/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844978	SCV000986804	not provided	Deafness, autosomal recessive 84b		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 06/29/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844983	SCV000986810	not provided	Lynch syndrome		no assertion provided	phenotyping only	Variant interpretted as pathogenic and reported on 07/24/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000844986	SCV000986813	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 01/00/1900 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000845004	SCV000986834	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 07/24/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000845021	SCV000986854	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as pathogenic and reported on 07/19/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000845034	SCV000986870	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 01/31/2017 by GTR ID Lineagen, Inc. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000845038	SCV000986875	not provided	Chromosome Xp21 deletion syndrome		no assertion provided	phenotyping only	Variant interpretted as pathogenic and reported on 10/11/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000845041	SCV000986878	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 10/17/2018 by GTR ID 500068. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000845075	SCV000986918	not provided	Poretti-Boltshauser syndrome		no assertion provided	phenotyping only	Variant interpretted as not providedand reported on 08/12/2015 by GTR ID Kleberg Cytogenetics Laboratory. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000845076	SCV000986919	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as not providedand reported on 08/12/2015 by GTR ID Kleberg Cytogenetics Laboratory. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000845079	SCV000986923	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 12/03/2018 by GTR ID Lineagen, Inc. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen	RCV000845097	SCV000986949	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 12/17/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Geschwind lab,University of California Los Angeles	RCV000225489	SCV000282167	likely pathogenic	Autism spectrum disorder	2015-10-12	criteria provided, single submitter	research
Geschwind lab,University of California Los Angeles	RCV000225526	SCV000282170	uncertain significance	Autism spectrum disorder	2015-10-12	criteria provided, single submitter	research
Geschwind lab,University of California Los Angeles	RCV000225626	SCV000282171	uncertain significance	Autism spectrum disorder	2015-10-12	criteria provided, single submitter	research
Geschwind lab,University of California Los Angeles	RCV000225541	SCV000282176	association	Autism spectrum disorder	2015-10-12	criteria provided, single submitter	research
Geschwind lab,University of California Los Angeles	RCV000225635	SCV000282177	uncertain significance	Autism spectrum disorder	2015-10-12	criteria provided, single submitter	research
Geschwind lab,University of California Los Angeles	RCV000225416	SCV000282178	uncertain significance	Autism spectrum disorder	2015-10-12	criteria provided, single submitter	research
Geschwind lab,University of California Los Angeles	RCV000225562	SCV000282179	uncertain significance	Autism spectrum disorder	2015-10-12	criteria provided, single submitter	research
Geschwind lab,University of California Los Angeles	RCV000225652	SCV000282180	uncertain significance	Autism spectrum disorder	2015-10-12	criteria provided, single submitter	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208726	SCV000172690	likely pathogenic	Autism spectrum disorder; Epilepsy	2010-12-23	no assertion criteria provided	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208738	SCV000172691	uncertain significance	Autism spectrum disorder; Epilepsy	2012-01-01	no assertion criteria provided	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208716	SCV000172692	uncertain significance	Autism spectrum disorder; Epilepsy	2012-01-01	no assertion criteria provided	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208725	SCV000172693	likely pathogenic	Autism spectrum disorder	2012-01-01	no assertion criteria provided	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208737	SCV000172694	likely pathogenic	Autism spectrum disorder	2012-01-01	no assertion criteria provided	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208719	SCV000172695	likely pathogenic	Autism spectrum disorder	2012-01-01	no assertion criteria provided	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208728	SCV000172696	likely pathogenic	Autism spectrum disorder	2012-01-01	no assertion criteria provided	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208742	SCV000172697	likely pathogenic	Autism spectrum disorder	2011-08-12	no assertion criteria provided	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208718	SCV000172698	pathogenic	Autism spectrum disorder; Epilepsy	2011-08-12	no assertion criteria provided	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208731	SCV000172699	pathogenic	Autism spectrum disorder	2011-08-12	no assertion criteria provided	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208741	SCV000172700	pathogenic	Autism spectrum disorder; Epilepsy	2011-08-12	no assertion criteria provided	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208724	SCV000172701	uncertain significance	Autism spectrum disorder; Epilepsy	2011-08-12	no assertion criteria provided	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208735	SCV000172702	uncertain significance	Autism spectrum disorder; Epilepsy	2011-08-12	no assertion criteria provided	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208739	SCV000172703	uncertain significance	Autism spectrum disorder	2012-01-01	no assertion criteria provided	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208722	SCV000172704	uncertain significance	Autism spectrum disorder	2012-01-01	no assertion criteria provided	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208734	SCV000172705	uncertain significance	Autism spectrum disorder	2011-08-12	no assertion criteria provided	research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo	RCV000208746	SCV000172706	uncertain significance	Autism spectrum disorder; Epilepsy	2012-01-01	no assertion criteria provided	research
ITMI	RCV000122425	SCV000083976	not provided	not specified	2013-09-19	no assertion provided	reference population
ITMI	RCV000122426	SCV000083977	not provided	not specified	2013-09-19	no assertion provided	reference population
ITMI	RCV000122428	SCV000083979	not provided	not specified	2013-09-19	no assertion provided	reference population
ITMI	RCV000122429	SCV000083980	not provided	not specified	2013-09-19	no assertion provided	reference population
ITMI	RCV000122430	SCV000083981	not provided	not specified	2013-09-19	no assertion provided	reference population
ITMI	RCV000119920	SCV000084050	not provided	not specified	2013-09-19	no assertion provided	reference population
Illumina Clinical Services Laboratory,Illumina	RCV000393096	SCV000483466	likely benign	Myopathy, distal, 1	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000304800	SCV000483467	likely benign	Myosin storage myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000341222	SCV000483468	likely benign	Scapuloperoneal myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000393119	SCV000483469	likely benign	Left ventricular noncompaction cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000310759	SCV000483470	likely benign	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000365436	SCV000483471	likely benign	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000261807	SCV000483973	likely benign	Myosclerosis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000330899	SCV000483974	likely benign	Collagen VI-related myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000285741	SCV000484314	benign	Birk-Barel Intellectual Disability Dysmorphism Syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Inherited Eye Disorders lab,UCL Institute of Ophthalmology	RCV000787352	SCV000898497	pathogenic	Chorioretinal atrophy, progressive bifocal	2018-11-01	no assertion criteria provided	research
Inherited Eye Disorders lab,UCL Institute of Ophthalmology	RCV000787351	SCV000898498	pathogenic	Chorioretinal atrophy, progressive bifocal; North Carolina macular dystrophy	2018-11-01	no assertion criteria provided	research
Institute for Ophthalmic Research,University Tuebingen	RCV000656139	SCV000612182	pathogenic	Cone monochromatism	2017-11-21	no assertion criteria provided	research	De novo mutation
Institute of Cellular and Molecular Medicine,Copenhagen University	RCV000714264	SCV000747864	likely pathogenic	not provided	2018-02-02	no assertion criteria provided	research
Institute of Human Genetics,Klinikum rechts der Isar	RCV000505401	SCV000599662	pathogenic	Familial X-linked hypophosphatemic vitamin D refractory rickets	2013-11-06	criteria provided, single submitter	clinical testing
Institute of Human Genetics,Klinikum rechts der Isar	RCV000505435	SCV000599703	pathogenic	Familial X-linked hypophosphatemic vitamin D refractory rickets	2017-08-31	criteria provided, single submitter	clinical testing
Institute of Molecular and Cell Biology, University of Tartu	RCV000161147	SCV000191104	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161148	SCV000191105	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161151	SCV000191108	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161152	SCV000191109	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161153	SCV000191110	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161154	SCV000191111	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161155	SCV000191112	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161156	SCV000191113	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161157	SCV000191114	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161158	SCV000191115	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161159	SCV000191116	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161160	SCV000191117	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161161	SCV000191118	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161163	SCV000191120	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161166	SCV000191123	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161167	SCV000191124	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161168	SCV000191125	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161169	SCV000191126	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161170	SCV000191127	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161171	SCV000191128	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161172	SCV000191129	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161173	SCV000191130	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161174	SCV000191131	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161175	SCV000191132	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161176	SCV000191133	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161177	SCV000191134	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161178	SCV000191135	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161179	SCV000191136	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161180	SCV000191137	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161181	SCV000191138	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161182	SCV000191139	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161183	SCV000191140	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161184	SCV000191141	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161185	SCV000191142	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161187	SCV000191144	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161188	SCV000191145	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161189	SCV000191146	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161190	SCV000191147	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161192	SCV000191149	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161193	SCV000191150	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161194	SCV000191151	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161197	SCV000191154	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161199	SCV000191156	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161200	SCV000191157	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161202	SCV000191159	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161203	SCV000191160	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161204	SCV000191161	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161205	SCV000191162	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161206	SCV000191163	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161207	SCV000191164	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161208	SCV000191165	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161209	SCV000191166	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161210	SCV000191167	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161212	SCV000191169	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161217	SCV000191174	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161218	SCV000191175	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161222	SCV000191179	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161223	SCV000191180	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161224	SCV000191181	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161225	SCV000191182	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161226	SCV000191183	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161227	SCV000191184	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161228	SCV000191185	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161229	SCV000191186	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161230	SCV000191187	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161232	SCV000191189	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161233	SCV000191190	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161234	SCV000191191	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161236	SCV000191193	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161237	SCV000191194	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161238	SCV000191195	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161239	SCV000191196	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161240	SCV000191197	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161241	SCV000191198	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161242	SCV000191199	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161243	SCV000191200	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161244	SCV000191201	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161245	SCV000191202	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161246	SCV000191203	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161248	SCV000191205	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161249	SCV000191206	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161250	SCV000191207	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161252	SCV000191209	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161253	SCV000191210	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161254	SCV000191211	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161255	SCV000191212	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161256	SCV000191213	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161261	SCV000191218	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161262	SCV000191219	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161263	SCV000191220	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161264	SCV000191221	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161265	SCV000191222	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161266	SCV000191223	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161267	SCV000191224	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161268	SCV000191225	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161269	SCV000191226	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161270	SCV000191227	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161271	SCV000191228	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161278	SCV000191235	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161279	SCV000191236	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161280	SCV000191237	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161281	SCV000191238	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161282	SCV000191239	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161283	SCV000191240	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161284	SCV000191241	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161285	SCV000191242	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161286	SCV000191243	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161287	SCV000191244	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161288	SCV000191245	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161289	SCV000191246	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161290	SCV000191247	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161291	SCV000191248	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161292	SCV000191249	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161293	SCV000191250	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161294	SCV000191251	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161298	SCV000191255	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161300	SCV000191257	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161301	SCV000191258	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161302	SCV000191259	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161303	SCV000191260	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161304	SCV000191261	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161305	SCV000191262	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161306	SCV000191263	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161307	SCV000191264	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161311	SCV000191268	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161312	SCV000191269	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161313	SCV000191270	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161314	SCV000191271	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161315	SCV000191272	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161316	SCV000191273	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161317	SCV000191274	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161318	SCV000191275	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161319	SCV000191276	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161320	SCV000191277	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161321	SCV000191278	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161327	SCV000191284	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161328	SCV000191285	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161329	SCV000191286	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161331	SCV000191288	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161332	SCV000191289	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161333	SCV000191290	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161334	SCV000191291	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161335	SCV000191292	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161336	SCV000191293	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161337	SCV000191294	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161339	SCV000191296	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161340	SCV000191297	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161341	SCV000191298	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161342	SCV000191299	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161343	SCV000191300	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161344	SCV000191301	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161345	SCV000191302	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161346	SCV000191303	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161347	SCV000191304	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161349	SCV000191306	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161352	SCV000191309	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161353	SCV000191310	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161354	SCV000191311	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161356	SCV000191313	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161358	SCV000191315	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161359	SCV000191316	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161360	SCV000191317	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161361	SCV000191318	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161362	SCV000191319	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161363	SCV000191320	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161364	SCV000191321	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161365	SCV000191322	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161366	SCV000191323	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161367	SCV000191324	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161368	SCV000191325	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161369	SCV000191326	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161370	SCV000191327	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161371	SCV000191328	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161372	SCV000191329	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161373	SCV000191330	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161374	SCV000191331	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161375	SCV000191332	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161376	SCV000191333	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161377	SCV000191334	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161378	SCV000191335	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161379	SCV000191336	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161380	SCV000191337	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161381	SCV000191338	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161382	SCV000191339	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161383	SCV000191340	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161384	SCV000191341	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161385	SCV000191342	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161386	SCV000191343	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161387	SCV000191344	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161388	SCV000191345	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161389	SCV000191346	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161390	SCV000191347	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161391	SCV000191348	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161392	SCV000191349	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161393	SCV000191350	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161394	SCV000191351	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161395	SCV000191352	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161396	SCV000191353	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161397	SCV000191354	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161400	SCV000191357	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161404	SCV000191361	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161405	SCV000191362	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161406	SCV000191363	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161407	SCV000191364	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161409	SCV000191366	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161410	SCV000191367	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161411	SCV000191368	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161412	SCV000191369	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161413	SCV000191370	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161414	SCV000191371	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161415	SCV000191372	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161416	SCV000191373	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161417	SCV000191374	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161418	SCV000191375	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161419	SCV000191376	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161420	SCV000191377	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161422	SCV000191379	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161423	SCV000191380	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161424	SCV000191381	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161425	SCV000191382	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161426	SCV000191383	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161427	SCV000191384	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161431	SCV000191388	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161432	SCV000191389	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161435	SCV000191392	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161436	SCV000191393	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161437	SCV000191394	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161438	SCV000191395	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161439	SCV000191396	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161440	SCV000191397	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161441	SCV000191398	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161442	SCV000191399	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161443	SCV000191400	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161444	SCV000191401	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161445	SCV000191402	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161446	SCV000191403	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161447	SCV000191404	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161448	SCV000191405	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161449	SCV000191406	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161450	SCV000191407	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161453	SCV000191410	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161454	SCV000191411	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161455	SCV000191412	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161456	SCV000191413	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161459	SCV000191416	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161460	SCV000191417	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161462	SCV000191419	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161463	SCV000191420	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161464	SCV000191421	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161465	SCV000191422	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161466	SCV000191423	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161467	SCV000191424	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161468	SCV000191425	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161469	SCV000191426	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161470	SCV000191427	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161472	SCV000191429	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161474	SCV000191431	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161475	SCV000191432	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161476	SCV000191433	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161477	SCV000191434	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161478	SCV000191435	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161479	SCV000191436	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161480	SCV000191437	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161481	SCV000191438	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161482	SCV000191439	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161484	SCV000191441	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161485	SCV000191442	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161486	SCV000191443	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161487	SCV000191444	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161489	SCV000191446	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161490	SCV000191447	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161492	SCV000191449	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161493	SCV000191450	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161495	SCV000191452	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161496	SCV000191453	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161497	SCV000191454	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161498	SCV000191455	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161499	SCV000191456	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161500	SCV000191457	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161501	SCV000191458	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161502	SCV000191459	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161503	SCV000191460	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161504	SCV000191461	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161505	SCV000191462	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161506	SCV000191463	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161507	SCV000191464	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161509	SCV000191466	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161510	SCV000191467	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161512	SCV000191469	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161513	SCV000191470	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161514	SCV000191471	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161515	SCV000191472	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161516	SCV000191473	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161517	SCV000191474	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161518	SCV000191475	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161519	SCV000191476	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161520	SCV000191477	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161521	SCV000191478	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161522	SCV000191479	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161523	SCV000191480	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161526	SCV000191483	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161527	SCV000191484	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161528	SCV000191485	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161529	SCV000191486	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161530	SCV000191487	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161538	SCV000191495	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161539	SCV000191496	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161540	SCV000191497	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161541	SCV000191498	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161543	SCV000191500	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161544	SCV000191501	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161545	SCV000191502	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161546	SCV000191503	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161547	SCV000191504	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161548	SCV000191505	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161549	SCV000191506	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161550	SCV000191507	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161551	SCV000191508	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161552	SCV000191509	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161553	SCV000191510	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161558	SCV000191515	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161559	SCV000191516	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161562	SCV000191519	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161563	SCV000191520	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161564	SCV000191521	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161565	SCV000191522	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161566	SCV000191523	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161567	SCV000191524	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161568	SCV000191525	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161569	SCV000191526	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161570	SCV000191527	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161571	SCV000191528	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161572	SCV000191529	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161573	SCV000191530	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161574	SCV000191531	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161575	SCV000191532	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161576	SCV000191533	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161581	SCV000191538	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161582	SCV000191539	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161583	SCV000191540	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161584	SCV000191541	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161585	SCV000191542	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161586	SCV000191543	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161587	SCV000191544	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161588	SCV000191545	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161589	SCV000191546	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161590	SCV000191547	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161591	SCV000191548	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161593	SCV000191550	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161594	SCV000191551	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161595	SCV000191552	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161598	SCV000191555	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161600	SCV000191557	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161601	SCV000191558	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161602	SCV000191559	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161603	SCV000191560	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161604	SCV000191561	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161605	SCV000191562	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161609	SCV000191566	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161610	SCV000191567	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161611	SCV000191568	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161612	SCV000191569	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161614	SCV000191571	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161615	SCV000191572	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161616	SCV000191573	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161617	SCV000191574	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161618	SCV000191575	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161619	SCV000191576	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161620	SCV000191577	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161621	SCV000191578	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161622	SCV000191579	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161624	SCV000191581	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161625	SCV000191582	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161628	SCV000191585	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161629	SCV000191586	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161630	SCV000191587	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161632	SCV000191589	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161634	SCV000191591	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161635	SCV000191592	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161636	SCV000191593	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161637	SCV000191594	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161638	SCV000191595	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161639	SCV000191596	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161640	SCV000191597	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161641	SCV000191598	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161642	SCV000191599	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161643	SCV000191600	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161645	SCV000191602	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161646	SCV000191603	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161647	SCV000191604	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161649	SCV000191606	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161650	SCV000191607	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161651	SCV000191608	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161652	SCV000191609	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161653	SCV000191610	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161654	SCV000191611	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161655	SCV000191612	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161656	SCV000191613	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161657	SCV000191614	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161662	SCV000191619	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161663	SCV000191620	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161664	SCV000191621	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161665	SCV000191622	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161667	SCV000191624	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161668	SCV000191625	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161671	SCV000191628	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161672	SCV000191629	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161673	SCV000191630	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161674	SCV000191631	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161675	SCV000191632	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161676	SCV000191633	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161677	SCV000191634	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161681	SCV000191638	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161684	SCV000191641	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161687	SCV000191644	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161688	SCV000191645	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161689	SCV000191646	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161690	SCV000191647	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161691	SCV000191648	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161692	SCV000191649	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161693	SCV000191650	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161694	SCV000191651	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161695	SCV000191652	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161696	SCV000191653	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161698	SCV000191655	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161699	SCV000191656	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161701	SCV000191658	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161702	SCV000191659	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161703	SCV000191660	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161704	SCV000191661	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161705	SCV000191662	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161706	SCV000191663	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161707	SCV000191664	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161709	SCV000191666	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161710	SCV000191667	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161711	SCV000191668	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161712	SCV000191669	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161713	SCV000191670	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161714	SCV000191671	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161715	SCV000191672	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161716	SCV000191673	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161717	SCV000191674	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161721	SCV000191678	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161723	SCV000191680	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161724	SCV000191681	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161725	SCV000191682	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161726	SCV000191683	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161727	SCV000191684	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161728	SCV000191685	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161731	SCV000191688	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161732	SCV000191689	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161733	SCV000191690	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161735	SCV000191692	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161736	SCV000191693	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161737	SCV000191694	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161738	SCV000191695	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161739	SCV000191696	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161740	SCV000191697	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161741	SCV000191698	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161742	SCV000191699	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161743	SCV000191700	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161744	SCV000191701	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161745	SCV000191702	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161746	SCV000191703	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161747	SCV000191704	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161748	SCV000191705	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161749	SCV000191706	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161750	SCV000191707	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161751	SCV000191708	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161752	SCV000191709	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161753	SCV000191710	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161754	SCV000191711	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161755	SCV000191712	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161756	SCV000191713	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161757	SCV000191714	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161759	SCV000191716	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161760	SCV000191717	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161761	SCV000191718	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161762	SCV000191719	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161764	SCV000191721	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161765	SCV000191722	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161768	SCV000191725	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161770	SCV000191727	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161772	SCV000191729	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161773	SCV000191730	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161774	SCV000191731	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161775	SCV000191732	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161777	SCV000191734	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161778	SCV000191735	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161779	SCV000191736	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161781	SCV000191738	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161782	SCV000191739	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161784	SCV000191741	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161785	SCV000191742	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161786	SCV000191743	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161787	SCV000191744	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161789	SCV000191746	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161790	SCV000191747	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161791	SCV000191748	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161792	SCV000191749	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161793	SCV000191750	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161794	SCV000191751	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161795	SCV000191752	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161796	SCV000191753	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161797	SCV000191754	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161798	SCV000191755	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161800	SCV000191757	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161801	SCV000191758	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161802	SCV000191759	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161803	SCV000191760	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161804	SCV000191761	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161809	SCV000191766	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161810	SCV000191767	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161811	SCV000191768	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161812	SCV000191769	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161813	SCV000191770	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161814	SCV000191771	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161815	SCV000191772	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161816	SCV000191773	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161817	SCV000191774	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161818	SCV000191775	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161819	SCV000191776	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161820	SCV000191777	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161821	SCV000191778	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161822	SCV000191779	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161823	SCV000191780	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161824	SCV000191781	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161825	SCV000191782	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161826	SCV000191783	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161828	SCV000191785	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161829	SCV000191786	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161830	SCV000191787	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161831	SCV000191788	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161832	SCV000191789	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161833	SCV000191790	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161834	SCV000191791	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161835	SCV000191792	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161838	SCV000191795	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161839	SCV000191796	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161841	SCV000191798	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161842	SCV000191799	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161843	SCV000191800	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161844	SCV000191801	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161845	SCV000191802	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161846	SCV000191803	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161847	SCV000191804	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161848	SCV000191805	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161853	SCV000191810	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161854	SCV000191811	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161855	SCV000191812	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161856	SCV000191813	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161857	SCV000191814	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161858	SCV000191815	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161859	SCV000191816	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161860	SCV000191817	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161861	SCV000191818	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161862	SCV000191819	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161863	SCV000191820	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161864	SCV000191821	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161865	SCV000191822	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161868	SCV000191825	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161872	SCV000191829	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161873	SCV000191830	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161874	SCV000191831	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161875	SCV000191832	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161876	SCV000191833	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161877	SCV000191834	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161878	SCV000191835	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161879	SCV000191836	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161880	SCV000191837	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161881	SCV000191838	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161883	SCV000191840	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161886	SCV000191843	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161888	SCV000191845	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161889	SCV000191846	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161890	SCV000191847	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161891	SCV000191848	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161893	SCV000191850	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161894	SCV000191851	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161895	SCV000191852	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161896	SCV000191853	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161897	SCV000191854	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161899	SCV000191856	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161900	SCV000191857	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161901	SCV000191858	not provided	Gestational diabetes mellitus uncontrolled		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161902	SCV000191859	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161903	SCV000191860	not provided	Small for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161904	SCV000191861	not provided	Large for gestational age		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161905	SCV000191862	not provided	Preeclampsia		no assertion provided	case-control
Institute of Molecular and Cell Biology, University of Tartu	RCV000161907	SCV000191864	not provided	Normal pregnancy		no assertion provided	case-control
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine	RCV000162212	SCV000212221	pathogenic	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	2015-03-02	no assertion criteria provided	clinical testing
Invitae	RCV000199878	SCV000253761	pathogenic	Hereditary cutaneous melanoma	2017-01-16	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the CDKN2A gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants in CDKN2A are known to be pathogenic. Whole-gene deletions have been reported to segregate with melanoma and nervous system tumors in two independent families (PMID: 9622062). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000197635	SCV000253897	pathogenic	Familial cancer of breast	2016-07-01	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the CHEK2 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this particular variant has not been reported in the literature, truncating variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000210509	SCV000266799	pathogenic	Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome	2016-10-22	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the VHL gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Deletions of the entire VHL gene have been reported in multiple individuals and families with von Hippel-Lindau disease (PMID: 10830910, 10567493, 8634692, 17537157, 20567917). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000210514	SCV000266808	pathogenic	Hereditary breast and ovarian cancer syndrome	2016-11-06	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the BRCA1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants in BRCA1 are known to be pathogenic. Gross deletions of the BRCA1 gene have been reported in families and individuals affected with breast/ovarian cancer (PMID: 17661172, 21989022, 22762150). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000492851	SCV000581397	pathogenic	Hereditary breast and ovarian cancer syndrome	2016-12-19	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing the last 2712 nucleotides of exon 10 and all of exon 11 of the BRCA1 gene (c.1385_4186-2276del). The 5' breakpoint of this deletion is within exon 10 at nucleotide 1385, and the 3' breakpoint is within intron 11 at nucleotide 4186-2276. This creates a frameshift at residue 462 and is expected to result in an absent or disrupted protein product. A similar deletion involving exons 10-11, which in the literature are also known as exons 11-12, has been reported in an individual with breast cancer (PMID: 18703817). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000540764	SCV000622891	pathogenic	Gorlin syndrome	2017-04-19	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the PTCH1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants and gross deletions in PTCH1 are known to be pathogenic. Deletions involving the entire PTCH1 gene have been reported in individuals affected with Gorlin syndrome (PMID: 22382802, 17703323). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000557733	SCV000623136	pathogenic	Beckwith-Wiedemann syndrome	2017-09-07	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the NSD1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Similar deletions encompassing the entire NSD1 gene have been reported in many individuals affected with Sotos syndrome (PMID: 18505455, 21597970, 25608832). Loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12464997, 14571271, 15942875, 16247291). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000533918	SCV000623137	pathogenic	Beckwith-Wiedemann syndrome	2017-06-29	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exons 18-20 of the NSD1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NSD1-related disease. Loss-of-function variants in NSD1 are known to be pathogenic (PMID: Â¬â€ 12807965, 15942875, 17565729). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000548818	SCV000623513	uncertain significance	Hypertrophic cardiomyopathy	2018-06-28	criteria provided, single submitter	clinical testing	A gross duplication of the genomic region encompassing the full coding sequence of the TNNI3 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with a TNNI3-related disease. In summary, the exact genomic location of this variant is unknown and the effect of this whole TNNI3 gene duplication is unknown. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000549634	SCV000623932	pathogenic	Primary ciliary dyskinesia	2017-04-23	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exon 9 of the CCDC39 gene. While the exact position of the duplicated exon cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a CCDC39-related disease. However, it has been observed with a pathogenic variant (c.610-2A>G) in CCDC39 in an individual with primary ciliary dyskinesia (Invitae). While it is unknown if these two variants are on the same or opposite chromosomes, this observation suggests that the duplication of this exon may contribute to the cause of disease. For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000539192	SCV000623934	pathogenic	Primary ciliary dyskinesia	2017-08-11	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 54-70 of the DNAH5 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. This duplication has not been reported in the literature in individuals with DNAH5-related disease. However, it has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with primary ciliary dyskinesia (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000553952	SCV000623935	uncertain significance	Primary ciliary dyskinesia	2017-08-16	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exons 44-46 of the DNAH5 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with DNAH5-related disease. Experimental studies are not available for this copy number variant, and the functional significance of the deleted exons is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000527667	SCV000623936	likely pathogenic	Primary ciliary dyskinesia	2017-02-06	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 7-14 of the DNAH11 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. A copy number variant encompassing the same exons of DNAH11 occurs with a second rare variant (p.Arg3429Ser) in an individual with primary ciliary dyskinesia (PMID:26139845). While it is unknown if these two variants are on the same or opposite chromosomes, this observation suggests a duplication of exons 7-14 may contribute to the cause of disease. In summary, this variant is a rare exon level duplication, and a similar copy number variant has been reported in an affected individual. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae	RCV000538254	SCV000624561	pathogenic	Hereditary nonpolyposis colon cancer	2017-05-17	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the EPCAM gene has been identified. The 5â€šÃ„Ã´ boundary of this event is unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. If MSH2 has been tested and no copy number events are reported for it, then the 3' boundary of this event lies between the EPCAM and MSH2 genes. If MSH2 has not been tested, the 3' end of this event is unknown as it extends beyond the assayed region of this test. This is expected to result in an absent or disrupted protein product. Loss-of-function variants in EPCAM are known to be pathogenic. Deletion of the entire EPCAM gene has been reported in an individual affected with a Lynch syndrome-associated cancer and/or colorectal polyps (PMID: 25980754), as well as in an individual affected with autosomal recessive congenital tufting enteropathy (PMID: 24142340). In addition, deletions of EPCAM extending to the adjacent MSH2 gene have been reported in individuals with Lynch syndrome (PMID: 16086322, 22658618), and deletions involving the 3' end of the EPCAM gene are known to cause Lynch syndrome through the mechanism of transcriptional read-through resulting in silencing of the adjacent MSH2 gene (PMID: 21145788). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000531596	SCV000624563	uncertain significance	Hereditary nonpolyposis colon cancer	2017-04-11	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 1-4 of the MSH2 gene. If EPCAM has been tested and no copy number events are reported for it, then the 5' boundary of this event lies between the EPCAM and MSH2 genes. If EPCAM has not been tested, the 5' end of this event is unknown as it extends beyond the assayed region of this test. The 3' boundary is likely confined to intron 4 of the MSH2 gene. This duplication has not been reported in the literature in individuals with an MSH2-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on MSH2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000546344	SCV000624564	pathogenic	Hereditary nonpolyposis colon cancer	2017-07-18	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 5-9 of the EPCAM gene. The 5' boundary is likely confined to intron 4. If MSH2 has been tested and no copy number events are reported for it, then the 3â€šÃ„Ã´ boundary of this event lies between the EPCAM and MSH2 genes. If MSH2 has not been tested, the 3â€šÃ„Ã´ end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Deletions involving the 3â€šÃ„Ã´ region of the EPCAM gene (minimally, exon 9) are known to cause Lynch syndrome. These deletions lead to transcriptional read-through from the EPCAM promoter into the adjacent MSH2 gene, resulting in hypermethylation of the MSH2 promoter and silencing of MSH2 expression (PMID: 19098912, 19177550, 21309036). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000552246	SCV000624565	pathogenic	Hereditary nonpolyposis colon cancer	2017-07-26	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the MSH2 gene has been identified. If EPCAM has been tested and no copy number events are reported for it, then the 5' boundary of this event lies between the EPCAM and MSH2 genes. If EPCAM has not been tested, the 5' end of this event is unknown as it extends beyond the assayed region of this test. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. Similar deletions of the entire MSH2 gene have been reported in individuals affected with endometrial, prostate and breast cancer (PMID: 24323032, 25117503, 22691310), Lynch syndrome (PMID: 16837128, 22782591), and suspected Lynch syndrome (PMID: 11857745, 15475941). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000545560	SCV000624567	pathogenic	Hereditary nonpolyposis colon cancer	2018-02-20	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 1-7 of the MSH2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 7 of the MSH2 gene. This is expected to result in an absent or disrupted protein product. Similar deletions have been reported in several individuals and families affected with Lynch syndrome (PMID: 15942939, 16086322, 12938096, 19930554, 12373605, 16143124). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000560238	SCV000624568	uncertain significance	Hereditary nonpolyposis colon cancer	2017-09-02	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 2-7 of the MSH2 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in an individual with a MSH2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on MSH2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000534285	SCV000624569	pathogenic	Hereditary nonpolyposis colon cancer	2017-07-13	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exons 3-4 of the MSH2 gene. It preserves the integrity of the reading frame. While the deletion of exon 3-4 has not been reported in the literature, deletions of exon 3 and of exon 4 which are also in-frame deletions have been reported in individuals and families with Lynch syndrome (PMID: 19459153, 21642682, 16541406, 22883484, 9843200, 10480359, 14512394, 18566915). Furthermore, Deletion of exons 3 and 4 (p.Ala123_Gln264del) removes the connector domain (or DNA binding domain) of the MSH2 protein. The connector domain is required for mismatch repair (MMR) complex formation, which is necessary for adequate MSH2 mismatch repair protein function (PMID: 18822302, 18383312, 20080788, 26163658, 21454657). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000544514	SCV000624570	likely pathogenic	Hereditary nonpolyposis colon cancer	2018-03-29	criteria provided, single submitter	clinical testing	This variant results in a copy number gain of the genomic region encompassing exons 5-7 of the MSH2 gene.Â¬â€ While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MSH2-related disease.Â¬â€ ClinVar contains an entry for MSH2 duplications of exons 5-7 (Variation ID:Â¬â€ 218047). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae	RCV000559471	SCV000624571	pathogenic	Hereditary nonpolyposis colon cancer	2017-12-01	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exons 7-8 of the MSH2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic. Deletion of exons 7-8 has been reported in the literature in families affected with Lynch syndrome (PMID: 15942939, 16736289). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000537851	SCV000624572	likely pathogenic	Hereditary nonpolyposis colon cancer	2017-11-29	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exons 7-10 of the MSH2 gene. It preserves the integrity of the reading frame. A similar deletion of exons 7-10 has been reported in a single family affected with Lynch syndrome. Currently there is insufficient evidence to conclude whether this variant segregates with disease or not (PMID: 10495924). Experimental studies and prediction algorithms are not available for this deletion, and the functional significance of the deleted amino acids is currently unknown. A splice site variant (c.1276+1G>A) that results in the in-frame deletion of 16 amino acids (p.Gly410_Glu425del) thereby removing part of MSH3/MSH6 interaction domain is encompassed within the region deleted by this variant and has been determined to be pathogenic (PMID: 15849733, 19669161). This suggests that the domain deleted by this variant is critical for MSH2 protein function and that the removal of amino acids at this position may also be pathogenic. In summary, this deletion removes a critical portion of the MSH3/MSH6 interaction domain and has been described in a family affected with Lynch syndrome. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae	RCV000548206	SCV000624573	pathogenic	Hereditary nonpolyposis colon cancer	2017-07-26	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 11-16 of the MSH2 gene. The 5' boundary is likely confined to intron 10. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Similar deletions of exons 11-16 have been reported in individuals affected with Lynch syndrome, with evidence of segregation with disease (PMID: 17582678, 24039744). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000536931	SCV000624575	pathogenic	Hereditary nonpolyposis colon cancer	2018-05-09	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exon 14 of the MSH2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Deletion of exon 14 has been observed inÂ¬â€ individuals affected with hereditary non-polyposis colorectal cancer (PMID: 26437257, 18931482). ClinVar contains an entry for deletion of exon 14 (Variation ID:Â¬â€ 90931). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000551811	SCV000624576	pathogenic	Hereditary nonpolyposis colon cancer	2017-03-09	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 14-16 of the MSH2 gene. The 5' boundary is likely confined to intron 13. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Loss-of-function variants in MSH2 are known to be pathogenic. A deletion of MSH2 exons 14-16 has been reported in the literature in an individual affected with Lynch sydrome (PMID: 25430799). While this variant is not anticipated to result in nonsense mediated decay, it is expected to delete the last 197 amino acids of the MSH2 protein (Ser738-Thr934). This will remove most of the ATPase domain and all of the helix-turn-helix domain, both of which are important for MSH2 protein function (PMID: 18822302). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000525691	SCV000624577	pathogenic	Hereditary nonpolyposis colon cancer	2018-01-20	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exon 1 of the MSH6 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the MSH6 gene. This is expected to result in an absent or disrupted protein product. A deletion of exon 1 has not been reported in the literature in individuals with MSH6-related disease. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000555418	SCV000624579	pathogenic	Hereditary nonpolyposis colon cancer	2017-08-16	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 1-6 of the MSH6 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 6 of the MSH6 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MSH6-related disease. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 24362816,Â¬â€ 18269114). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000549730	SCV000624593	pathogenic	Hereditary nonpolyposis colon cancer	2017-11-27	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exons 13-14 of the PMS2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PMS2-related disease. This deletion eliminates a portion of the MLH1 interaction domain, which is encoded by exons 12 to 15 of the PMS2 mRNA. The entire MLH1 interaction domain is known to be required for normal PMS2 protein function (PMID: 10037723). Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000560003	SCV000624594	pathogenic	Hereditary nonpolyposis colon cancer	2018-03-20	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exons 7-14 of the PMS2 gene. It preserves the integrity of the reading frame. A similar deletion of exons 7-14 has been reported on the opposite chromosome (in trans) from another pathogenic variant in an individual with constitutional mismatch repair deficiency (CMMRD) (PMID: 23582141). This finding is consistent with autosomal recessive inheritance for CMMRD, and suggests that this variant contributes to disease. Several missense substitutions in exons 7-14 (p.Lys301Asn, p.Ile668Val and p.Glu705Lys) have been determined to be pathogenic (PMID: 18602922, 26110232, 25856668, 27435373, 25691505, 24027009, 20176959, 26318770, 27601186). This suggests that this region is critical for PMS2 protein function and this deletion variant may also be pathogenic. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000542078	SCV000624598	uncertain significance	Hereditary nonpolyposis colon cancer	2017-02-13	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 6-14 of the PMS2 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with a PMS2-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on PMS2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000553493	SCV000625723	pathogenic	Cystic fibrosis	2017-10-04	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exons 25-26 of the CFTR gene. It preserves the integrity of the reading frame. Deletions of exons 25-26 been reported in individuals affected with cystic fibrosis (PMID: 15024729, 16362824, 18683213). Due to alternative exon nomenclature, this variant is also known as deletion of exons 22-23 in the literature. This deletion disrupts the nucleotide binding domain (NBD2) of the CFTR protein, which is essential for ATP hydrolysis and proper CFTR function (PMID: 15284228). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000527161	SCV000625772	pathogenic	Duchenne muscular dystrophy	2017-02-27	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exons 58-61 of the DMD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791). A similar copy number variant has been reported in individuals affected with Duchenne muscular dystrophy in the Universal Mutation Database (PMID: 22144684). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000541907	SCV000625773	pathogenic	Duchenne muscular dystrophy	2017-06-29	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exons 53-60 of the DMD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has been reported in an individual affected with Duchenne muscular dystrophy (PMID: 16834926). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000541516	SCV000625779	pathogenic	Duchenne muscular dystrophy	2017-07-27	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exons 45-55 of the DMD gene. It preserves the integrity of the reading frame. This variant has been reported in several individuals affected with Duchenne or Becker muscular dystrophy (PMID: 22090376, 11257468, 26911353, 18752307, 20683981,Â¬â€ 16030524) and in individuals affected with dilated cardiomyopathy (PMID: 18261911). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000559416	SCV000625783	pathogenic	Duchenne muscular dystrophy	2018-07-03	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exons 49-51 of the DMD gene. It preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in two individuals affected with muscular dystrophy (PMID: 9470882, 9619643), as well as in several individuals with dilated cardiomyopathy (PMID: 9470882, 20031633, Invitae). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000542227	SCV000625799	pathogenic	Duchenne muscular dystrophy	2017-08-07	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exons 19-44 of the DMD gene. It preserves the integrity of the reading frame. This variant has been reported in individuals affected with Duchenne muscular dystrophy (PMID: 12324874, 9628192). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000544111	SCV000625805	uncertain significance	Duchenne muscular dystrophy	2017-08-08	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exon 30 of the DMD gene. While the exact position of the duplicated exon cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with DMD-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000547407	SCV000625808	pathogenic	Duchenne muscular dystrophy	2017-07-19	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 2-18 of the DMD gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. Duplication of exons 2-18 has not been reported in the literature in individuals with DMD-related disease. Sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000559673	SCV000625809	likely pathogenic	Duchenne muscular dystrophy	2017-07-11	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 13-16 of the DMD gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has been reported in an individual affected with Becker muscular dystrophy (PMID: 22776072). Similar in-frame duplications have been reported in multiple individuals affected with DMD-related muscular dystrophy (PMID: 15655674, 19937601, 18752307, 18853462, 16917894). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae	RCV000528452	SCV000625818	pathogenic	Duchenne muscular dystrophy	2018-03-12	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exon 1 of the DMD gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the DMD gene. This is expected to result in an absent or disrupted protein product. Deletions involving the promoter and exon 1 have been reported in individuals affected with DMD-related muscular dystrophy (PMID: 18752307, 25076844, 26718981) and in a family affected with dilated cardiomyopathy (PMID: 8361506). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000546533	SCV000626134	uncertain significance	Fanconi anemia	2017-06-23	criteria provided, single submitter	clinical testing	A gross duplication of the genomic region encompassing the full coding sequence of the FANCG gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with a FANCG-related disease. The exact genomic location of this variant is unknown. In summary, this variant has uncertain impact on FANCG function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000535898	SCV000626139	pathogenic	Fanconi anemia	2017-05-30	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exons 15-17 of the FANCA gene. It preserves the integrity of the reading frame. This deletion, and similar in-frame deletions within exons 15-17, have been reported in individuals affected with Fanconi anemia (PMID: 10521298, 23613520, 17924555, 9711872). The in-frame deletion of exon 15 has been reported as a founder variant in the Tunisian population (PMID: 24689079). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000546093	SCV000626140	pathogenic	Fanconi anemia	2017-02-28	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exons 12-14 of the FANCA gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000559283	SCV000626828	pathogenic	Wilson disease	2017-06-09	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exon 2 of the ATP7B gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has been reported in combination with another ATP7B variant in two individuals affected with Wilson disease (PMID: 27398169). Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 16283883, 10441329). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000558078	SCV000626868	pathogenic	Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome	2017-12-15	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the VHL gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Deletions of the entire VHL gene have been reported in multiple individuals and families with von Hippel-Lindau syndrome (PMID: 10830910, 10567493, 8634692, 17537157, 20567917). Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000551115	SCV000626870	pathogenic	Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome	2017-12-15	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 2-3 of the VHL gene. The 5' boundary is likely confined to intron 1. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Deletions of exons 2-3 have been reported several in individuals with von Hippel-Lindau (VHL) syndrome (PMID: 19336503, 17661816, 12114495, 19764026). This deletion includes the elongin binding domain of VHL, which is required for protein stability and tumor suppressive activity (PMID: 14987375, 10900011). There are also several pathogenic missense and loss-of-function variants encompassed by this deletion in individuals with VHL, further demonstrating the importance of this region (PMID: 8707293). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000543243	SCV000627006	pathogenic	Familial hypercholesterolemia	2018-03-07	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exons 7-12 of the LDLR gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. A deletion of exons 7-12 has been reported in the literature in an individual affected with familial hypercholesterolemia (PMID: 19538517). Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000531974	SCV000627008	likely pathogenic	Familial hypercholesterolemia	2017-08-11	criteria provided, single submitter	clinical testing	This variant is an in-frame duplication of the genomic region encompassing exons 4-8 of the LDLR gene. It preserves the integrity of the reading frame. This variant has been reported in individuals with familial hypercholesterolemia (PMID: 20663204, 16792510). Sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae	RCV000557837	SCV000627365	pathogenic	Long QT syndrome	2018-01-25	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 1-2 of the KCNH2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the KCNH2 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with KCNH2-related disease. Loss-of-function variants in KCNH2 are known to be pathogenic (PMID: 19862833). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000560623	SCV000627828	pathogenic	Marfan syndrome; Thoracic aortic aneurysm and aortic dissection	2017-03-14	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exons 14-17 of the FBN1 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in an individual with a FBN1-related disease. This deletion affects the epidermal-growth-factor (EGF)â€šÃ„Ã¬like domain of the FBN1 protein. Cysteine residues in these domains have been shown to be involved in the formation of disulfide bridges, which are critical for FBN1 protein structure and stability (PMID: 10486319, 3495735, 4750422, 16677079). In summary, this deletion disrupts an important functional domain in the FBN1 protein. For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000536805	SCV000627829	pathogenic	Marfan syndrome; Thoracic aortic aneurysm and aortic dissection	2017-01-24	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 11-15 of the FBN1 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This variant has not been reported in the literature in an individual with a FBN1-related condition. This gross deletion affects the epidermal-growth-factor (EGF)â€šÃ„Ã¬like domain of the FBN1 protein. Cysteine residues in this domain have been shown to be involved in the formation of disulfide bridges, which are critical for FBN1 protein structure and stability (PMID: 10486319, 3495735, 4750422, 16677079). In addition, missense substitutions within the FBN1 EGF-like domains affecting cysteine residues are significantly overrepresented among patients with Marfan syndrome (PMID: 16571647, 17701892), and variants within exons 11-15 have been classified as likely pathogenic or pathogenic (PMID: 10486319, 18471089, 21542060, 21932315, 795121, 27112580, Invitae). In summary, this is a rare gross deletion that affects a protein domain crucial for FBN1 protein function. For these reasons, this deletion has been classified as Pathogenic.
Invitae	RCV000544886	SCV000627830	pathogenic	Marfan syndrome; Thoracic aortic aneurysm and aortic dissection	2018-03-16	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 2-15 of the FBN1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 15 of the FBN1 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with FBN1-related disease. Loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000530964	SCV000628126	likely pathogenic	Hereditary cancer-predisposing syndrome	2017-07-13	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exons 3-5 of the RAD50 gene. It preserves the integrity of the reading frame. Deletions of exons 3-5 have not been reported in the literature in individuals with RAD50-related disease. While this variant is not expected to result in nonsense mediated decay, it is expected to delete nearly the entire N-terminal ATPase domain of the RAD50 protein (deleted residues Val72-Lys252) (PMID: 10892749, 24894818). It is also expected to delete the N-terminal portion of the MRE11 interaction domain (PMID: 24894818). Although functional studies have not been done for this particular variant, loss of this N-terminal region of the protein likely disrupts ATPase activity and MRE11 complexing, leading to impaired RAD50 protein function (PMID: 25828805). This suggests that deletion of this region of the RAD50 protein is causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae	RCV000546604	SCV000628127	pathogenic	Hereditary cancer-predisposing syndrome	2017-07-13	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exons 14-16 of the RAD50 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a RAD50-related disease. Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 19409520, 16385572). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000529549	SCV000628836	uncertain significance	Neurofibromatosis, type 2	2017-05-02	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 13-16 of the NF2 gene. The 5' boundary is likely confined to intron 12. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with a NF2-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on NF2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000557921	SCV000629385	uncertain significance	Spastic paraplegia	2017-03-21	criteria provided, single submitter	clinical testing	A gross duplication of the genomic region encompassing the full coding sequence of the HSPD1 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with a HSPD1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on HSPD1 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000528754	SCV000630015	pathogenic	Hypohidrotic X-linked ectodermal dysplasia	2018-05-29	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exon 1 of the EDA gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the EDA gene. This is expected to result in an absent or disrupted protein product. A similar deletion has been reported in the literature in individuals affected with X-linked anhidrotic ectodermal dysplasia (PMID:8696334,11295832). Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000557231	SCV000630046	pathogenic	Citrullinemia type I	2016-12-15	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exon 5 of the ASS1 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Exon 5 deletions of ASS1 have been observed in individuals affected with citrullinemia type I (PMID: 2615645, Invitae). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000548124	SCV000630180	uncertain significance	Congenital contractural arachnodactyly	2017-03-30	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exon 3 of the FBN2 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with a FBN2-related disease. This deletion encompasses an epidermal growth factor (EGF)â€šÃ„Ã¬like domain of the FBN2 protein. Although missense variants in cysteine residues located in EGF-like domains in FBN2 are well known to affect protein stability, there is no evidence that the deletion of a full EGF-like domain impacts protein functionÂ¬â€ (PMID: 18767143). In summary, the impact of this single exon deletion of FBN2 on protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000550770	SCV000630741	uncertain significance	Hereditary pancreatitis	2017-07-07	criteria provided, single submitter	clinical testing	A gross duplication of the genomic region encompassing the full coding sequence of the SPINK1 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with SPINK1-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000532402	SCV000630851	pathogenic	Cohen syndrome	2017-07-14	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exons 8-23 of the VPS13B gene. It preserves the integrity of the reading frame. Deletion of exons 8-23 has not been reported in the literature in individuals with VPS13B-related disease. Smaller in-frame deletions encompassed by this variant (deletion of exons 20-21 or exons 18-21) have been reported in individuals affected with Cohen syndrome (PMID: 15141358, 16648375). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000545329	SCV000631230	uncertain significance	CHARGE association	2017-11-01	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the SEMA3E gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Deletions of the entire SEMA3E gene have not been reported in the literature. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SEMA3E cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance
Invitae	RCV000554640	SCV000631437	uncertain significance	Ehlers-Danlos syndrome, classic type	2017-02-12	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 8-54 of the COL5A2 gene. The 5' boundary is likely confined to intron 7. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes . As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Duplications of exons 8-54 Â¬â€ sequence have not been reported in the literature in individuals with a COL5A2-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on COL5A2 protein function has not been established. Therefore, it has been classified as a Variant of Unknown Significance.
Invitae	RCV000551893	SCV000632430	pathogenic	Fumarase deficiency	2018-04-06	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exon 6 of the FH gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This particular deletion has been reported in the literature in an individual affected with leiomyomatosis and renal cell cancer (PMID: 22382802). Loss-of-function variants in FH are known to be pathogenic (PMID: 11865300, 21398687). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000534871	SCV000632675	uncertain significance	Juvenile polyposis syndrome	2017-04-28	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 9-13 of the BMPR1A gene. The 5' boundary is likely confined to intron 9. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. Duplication of BMPR1A exons 9-13 has not been reported in the literature in individuals with a BMPR1A-related disorder. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this duplication is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on BMPR1A protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000549633	SCV000632676	pathogenic	Juvenile polyposis syndrome	2017-03-17	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exons 9-10 of the SMAD4 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in SMAD4 are known to be pathogenic (PMID: 17873119, 16152648). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000529004	SCV000632903	pathogenic	Familial cancer of breast	2017-06-15	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exon 7 of the BARD1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BARD1 are known to be pathogenic (PMID: 21344236, 22006311, 20077502). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000534626	SCV000632904	pathogenic	Familial cancer of breast	2017-01-24	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 4-11 of the BARD1 gene. The 5' boundary is likely confined to intron 3. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. While this particular variant has not been reported in the literature, truncating variants in BARD1 are known to be pathogenic (PMID: 21344236, 22006311, 20077502). Deletion of exons 7-11 removes the C-terminal BRCT domains of the BARD1 protein. Experimental studies have shown that the BRCT domains are required for BARD1 homology-directed repair activity and the maintenance of chromosomal stability in vitro (PMID: 17848578). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000549668	SCV000632905	uncertain significance	Familial cancer of breast	2018-01-04	criteria provided, single submitter	clinical testing	A gross duplication of the genomic region encompassing the full coding sequence of the BARD1 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with BARD1-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000527946	SCV000632906	likely pathogenic	Familial cancer of breast	2017-11-03	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 2-3 of the BARD1 gene. While the exact position of the duplicated exons cannot be determined from this data, sub-genic duplications are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BARD1-related disease. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae	RCV000538400	SCV000632907	pathogenic	Familial cancer of breast	2017-04-13	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 1 and 2 of the BARD1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the BARD1 gene. This is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, loss-of-function variants in BARD1 are known to be pathogenic (PMID: 21344236, 22006311, 20077502). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000527152	SCV000632909	pathogenic	Familial cancer of breast	2017-11-02	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exon 1 of the BARD1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the BARD1 gene. This is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BARD1 are known to be pathogenic (PMID: 21344236, 22006311, 20077502). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000529833	SCV000632915	pathogenic	Familial cancer of breast	2017-06-08	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 10-15 of the CHEK2 gene. The 5' boundary is likely confined to intron 9. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. While this gross deletion has not been reported in the literature, loss-of-function variants including gross deletions in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). This deletion (p.Tyr337_Leu543del) partially removes the kinase domain (residues 226-486), and the NLS (nuclear localization signal, residues 515-522), which are important for normal CHEK2 protein function (PMID: 11733767, 15279791, 19782031, 12909615, 18004398, 24879340). Smaller in-frame deletions and truncations in this region have been determined to be pathogenic in the Invitae database,Â¬â€ suggesting that deletion of this region of the CHEK2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000544738	SCV000632916	pathogenic	Familial cancer of breast	2017-07-28	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 8-15 of the CHEK2 gene. The 5' boundary is likely confined to intron 7. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with CHEK2-related disease. This deletion partially removes the kinase domain (residues 226-486), and the NLS (nuclear localization signal, residues 515-522), which are important for normal CHEK2 protein function (PMID: 11733767, 15279791, 19782031, 12909615, 18004398, 24879340). Smaller in-frame deletions and truncations in this region have been determined to be pathogenic in the Invitae database, suggesting that deletion of this region of the CHEK2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000529270	SCV000633748	uncertain significance	Early infantile epileptic encephalopathy	2017-07-21	criteria provided, single submitter	clinical testing	This copy number variant is a gain (6 copies) of the genomic region encompassing exon 8 of the HCN1 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copies of this region are likely in tandem and in-frame, therefore preserving the integrity of the reading frame. Similar copy number gains have not been reported in the literature in individuals with HCN1-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000546295	SCV000633749	uncertain significance	Early infantile epileptic encephalopathy	2017-03-16	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 1-4 of the HCN1 gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 4 of the HCN1 gene. This variant has not been reported in the literature in individuals with a HCN1-related disease. To date, only missense variants in HCN1 have been reported in individuals affected with epilepsy. In summary, this is a novel duplication with an uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000558692	SCV000633750	pathogenic	Early infantile epileptic encephalopathy	2017-05-09	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exon 4 of the STXBP1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Deletion of exon 4 has been reported in the literature in individuals affected with West syndrome (PMID: 26865513) and Ohtahara syndrome (PMID: 22211739). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000543784	SCV000633752	likely pathogenic	Early infantile epileptic encephalopathy	2017-08-10	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exon 17 of the KCNQ2 gene. The 5' boundary is likely confined to intron 16. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with a KCNQ2-related disease. A different variant that disrupts the final 98 amino acids of the KCNQ2 protein (p.Cys774Leufs*91) has been determined to be pathogenic (PMID: 23692823). This suggests that this region is critical for KCNQ2 protein function and that other variants that disrupt this region, such as this exon 17 deletion, may also be pathogenic. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae	RCV000560721	SCV000633753	pathogenic	Early infantile epileptic encephalopathy	2017-06-03	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 6-17 of the KCNQ2 gene. The 5' boundary is likely confined to intron 5. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This particular deletion has not been reported in the literature in individuals with a KCNQ2-related disease. Â¬â€ However, other deletions that truncate the protein, including deletion of exons 9-17 and exons 13-17, have been reported to segregate with disease in families affected with benign familial neonatal seizures (PMID: 9425895, 14534157, 23360469). This suggests that deletion of this region of the KCNQ2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000536780	SCV000633754	pathogenic	Early infantile epileptic encephalopathy	2017-06-01	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exons 6-12 of the KCNQ2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000554746	SCV000634557	pathogenic	Joubert syndrome	2017-12-13	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exon 7 and part of exon 8 of the AHI1 gene. The 5â€šÃ„Ã´ end of this event is located at c.749+528 in intron 6 and the 3â€šÃ„Ã´ boundary is located at c.1058 in exon 8 of the AHI1 gene (c.749+528_1058del). This deletion affects an acceptor splice site and is expected to disrupt RNA splicing, likely resulting in an absent or disrupted protein product. This particular deletion has not been reported in the literature in individuals with an AHI1-related disease, but has been observed to segregate with Joubert syndrome in a single family (Invitae). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000556066	SCV000635095	pathogenic	Hereditary breast and ovarian cancer syndrome	2017-06-19	criteria provided, single submitter	clinical testing	This variant is a partial deletion of exon 3 of the BRCA2 gene, including the exon 3 / intron 3 donor splice site (c.277_317-726delinsCCAT). This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000540293	SCV000635097	pathogenic	Hereditary breast and ovarian cancer syndrome	2017-08-23	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exons 5-7 of the BRCA2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BRCA2-related disease. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000557636	SCV000635101	likely pathogenic	Hereditary breast and ovarian cancer syndrome	2017-03-21	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 12-13 of the BRCA2 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). In summary, sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. However, the exact location of this duplication has not been confirmed. Therefore, it has been classified as Likely Pathogenic.
Invitae	RCV000545391	SCV000636113	benign	Nephronophthisis	2017-02-10	criteria provided, single submitter	clinical testing
Invitae	RCV000540926	SCV000637350	pathogenic	Joubert syndrome; Oral-facial-digital syndrome	2017-04-08	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the OFD1Â¬â€ gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Whole gene deletions of OFD1 have been reported in two unrelated individuals with oral-facial-digital syndrome (PMID: 23033313) and one individual with ventriculomegaly and agenesis of the corpus callosum (PMID: 24476948). Since the deletion in this female individual extends beyond OFD1, it is possible that a large rearrangement on the X chromosome may be responsible for the phenotype rather than loss of OFD1 alone. In summary, this gross deletion eliminates one copy of the OFD1 gene and similar deletions have been reported in affected individuals. For these reasons, this deletion has been classified as Pathogenic.
Invitae	RCV000526179	SCV000637867	uncertain significance	Hereditary Paraganglioma-Pheochromocytoma Syndromes	2017-11-03	criteria provided, single submitter	clinical testing	A gross duplication of the genomic region encompassing the full coding sequence of the TMEM127 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with TMEM127-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000548121	SCV000638403	pathogenic	Myoclonic dystonia	2016-05-02	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 6-9 of the SGCE gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Gross deletions of SGCE are known to be pathogenic. Â¬â€ A similar copy number change has been reported in an individual with myclonus dystonia (PMID: 19066193). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000534213	SCV000638448	uncertain significance	Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic	2017-07-05	criteria provided, single submitter	clinical testing	A gross duplication of the genomic region encompassing the full coding sequence of the SLC5A7 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This duplication has not been reported in the literature in individuals with SLC5A7-related disease. Experimental studies are not available for this duplication and the functional significance of an additional copy of this gene is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000528877	SCV000638530	uncertain significance	Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9	2016-09-23	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 38 to 46 of the KIF1A gene. The 5' boundary is likely confined to intron 37. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with a KIF1A-related disease, and its frequency in the general population is not known. In summary, because the exact 3' boundary of this variant has not been determined, and whether this duplication occurs in tandem is not known, the impact of this duplication on KIF1A protein function can not be established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000534639	SCV000638531	benign	Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9	2018-01-03	criteria provided, single submitter	clinical testing
Invitae	RCV000524974	SCV000639529	pathogenic	Capillary malformation-arteriovenous malformation	2017-10-18	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 1-9 of the RASA1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 9Â¬â€ of the RASA1 gene. This is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000558513	SCV000639708	uncertain significance	Biotin-thiamine-responsive basal ganglia disease	2017-04-07	criteria provided, single submitter	clinical testing	A gross duplication of the genomic region encompassing the full coding sequence of the SLC19A3 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Whole gene duplications of SLC19A3 have not been reported in the literature in individuals with a SLC19A3-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on SLC19A3 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000551540	SCV000640980	pathogenic	Multiple exostoses type 2	2018-01-24	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exon 8 of the EXT2 gene. It preserves the integrity of the reading frame. Deletions of exon 8 have been reported in several individuals with multiple osteochondromas (PMID: 18165274, 19810120). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000545713	SCV000640994	uncertain significance	Aortic aneurysm, familial thoracic 4	2017-05-10	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the MYH11 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with a MYH11-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH11 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance.
Invitae	RCV000536086	SCV000641692	pathogenic	Lethal multiple pterygium syndrome	2016-12-14	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 5-9 of the CHRNA1 gene. The 5' boundary is likely confined to intron 4. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. While this particular variant has not been reported in the literature, truncating variants in CHRNA1 are known to cause autosomal recessive congenital myasthenic syndrome (PMID: 14719537). This truncation eliminates multiple conserved functional regions (transmembrane, cytoplasmic) of the CHRNA1 protein (PMID: 25348405, 22728938) and a high percentage of previously reported CHRNA1 missense mutations have been found in the truncated region (PMID: 14719537,Â¬â€ 27748205, 10195214). These observations suggest that this truncation will result in a non-functional CHRNA1 protein product. For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000551394	SCV000641856	pathogenic	Mowat-Wilson syndrome	2017-07-13	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exon 2 of the ZEB2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the ZEB2 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ZEB2-related disease. Loss-of-function variants in ZEB2 are known to be pathogenic (PMID: 16053902). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000540097	SCV000642053	likely benign	Neuropathy, hereditary motor and sensory, Okinawa type; Spastic paraplegia 57, autosomal recessive	2017-12-29	criteria provided, single submitter	clinical testing
Invitae	RCV000528294	SCV000642112	likely pathogenic	Ataxia-telangiectasia-like disorder 1	2017-10-14	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 6-7 of the MRE11 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MRE11-related disease. Sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae	RCV000530985	SCV000642208	uncertain significance	Spastic paraplegia 11, autosomal recessive	2018-03-14	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 31-32 of the SPG11 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. Duplications of exons 31-32 have not been reported in the literature in individuals with a SPG11-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on SPG11 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000526440	SCV000644138	pathogenic	3-methylcrotonyl CoA carboxylase 2 deficiency	2017-05-05	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exons 7-14 of the MCCC2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss of function variants in MCCC2 are known to be pathogenic (PMID: 16010683). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000526208	SCV000644198	pathogenic	Tuberous sclerosis 2	2018-06-18	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exon 2 of the TSC2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the TSC2 gene. This is expected to result in an absent or disrupted protein product. Loss-of-function variants including gross deletions in TSC2 are known to be pathogenic. Similar deletions encompassing at least exon 2, also known as exon 1 in the literature, have been reported in individuals with tuberous sclerosis complex (PMID: 17287951, 25664948, 21520333). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000549978	SCV000644698	pathogenic	Cerebral cavernous malformation	2017-04-25	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 5-18 of the KRIT1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 18 of the KRIT1 gene. This is expected to result in an absent or disrupted protein product. While this particular gross deletion has not been reported in the literature, loss-of-function variants in KRIT1 are known to be pathogenic (PMID: 12404106, 23595507). A similar gross deletion has been reported in an individual affected with cerebral cavernous malformations (PMID: 23595507). In that study, this gene is referred to as CCM1, and the event is described as a deletion of exons 1-17 relative to the alternative transcript, NM_004912.3. Because the 5' end of this event extends beyond the assayed region for this gene, it is unclear if the number of deleted untranslated exons are the same, nor whether there are additional intergenic sequence deleted. However, the deleted coding regions are the same between this previously published variant and the event observed in this individual. For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000538692	SCV000644700	likely pathogenic	Cerebral cavernous malformation	2017-04-18	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 7-9 of the KRIT1 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. This variant Â¬â€ has not been reported in the literature in individuals with a KRIT1-related disease. In summary, sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. However, the exact location of this duplication has not been confirmed. Therefore, it has been classified as Likely Pathogenic.
Invitae	RCV000550940	SCV000645156	likely pathogenic	Majeed syndrome	2016-08-11	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 7-18 of the LPIN2 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This deletion disruptsÂ¬â€ the DXDXT and LXXIL motifs that are known to be key for protein function in another member of the Lipin family of proteins, LPIN1 (PMID: 16950137, 19369868). For these reasons, this variant has been classified as Likely Pathogenic.
Invitae	RCV000535358	SCV000645335	pathogenic	Spastic paraplegia 4, autosomal dominant	2017-06-29	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 1-7 of the SPAST gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 7 of the SPAST gene. This is expected to result in an absent or disrupted protein product. This variant has been reported in an individual affected with hereditary spastic paraplegia. It was also found in an unaffected relative, potentially representing a case of incomplete penetrance (PMID: 17035675). Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000543564	SCV000645336	pathogenic	Spastic paraplegia 4, autosomal dominant	2018-05-18	criteria provided, single submitter	clinical testing	A gross deletion of the genomic region encompassing the full coding sequence of the SPAST gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). This particular gene deletion has been reported in the literature in multiple individuals and families affected with hereditary spastic paraplegia (PMID:Â¬â€ 17098887, 25421405). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000560513	SCV000645337	pathogenic	Spastic paraplegia 4, autosomal dominant	2017-03-01	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exons 8-9 of the SPAST gene. It preserves the integrity of the reading frame. This variant has been reported in multiple unrelated individuals affected with hereditary spastic paraplegia (PMID: 19423133, 25065914). It has also been reported to segregate with autosomal dominant hereditary spastic paraplegia in a single family (PMID: 19423133). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000535157	SCV000645338	pathogenic	Spastic paraplegia 4, autosomal dominant	2017-03-14	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 10-11, and part of exon 12 of the SPAST gene. The 5' boundary is likely confined to intron 9. The 3' end of this event is located at position c.1477 in exon 12 (chr2:32362241). This likely creates a premature stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000559835	SCV000645374	pathogenic	Parkinson disease 2	2018-04-26	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exon 3 of the PARK2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exon 3 has been reportedÂ¬â€ in multiple individuals and families affected with early onset Parkinson's disease (PMID: 25833766, 19715670, 23880019). Loss-of-function variants in PARK2 are known to be pathogenic (PMID: 10072423, 20301651, 22956510). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000531632	SCV000645375	pathogenic	Parkinson disease 2	2017-12-22	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exons 2-3 of the PARK2 gene. It preserves the integrity of the reading frame. This variant has been reported in the compound heterozygous state in several individuals affected with early-onset Parkinson's disease (PMID: 21215313, 17914726, 23880019, 10824074). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000539770	SCV000645387	pathogenic	Griscelli syndrome type 2	2018-02-12	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 2-4 of the RAB27A gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 4 of the RAB27A gene. This is expected to result in an absent or disrupted protein product. Deletion of exons 2-4 of RAB27A has been reported in the literature in an individual affected with hemophagocytic lymphohistiocytosis (PMID: 23160464). Loss-of-function variants in RAB27A are known to be pathogenic (PMID: 10835631, 23160464). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000532000	SCV000645458	likely pathogenic	Limb-girdle muscular dystrophy, type 2A	2017-04-18	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exons 17-19 of the CAPN3 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with a CAPN3-related disease. This deletion removes a calcium binding EF hand domain of the calpain 3 protein. The proper binding of calcium has been reported to be necessary for proper protease function (PMID: 24846670). A missense mutation (p.Asp705Gly) located at an amino acid residue that binds calcium has been reported to be pathogenic and is located within this deleted region (PMID: 15138196, 21624972). Â¬â€ This suggests that the deleted region is critical for proper CAPN3 protein function In summary, this variant is a novel gross deletion that removes a region of the gene that is functionally important. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae	RCV000558868	SCV000645540	pathogenic	PTEN hamartoma tumor syndrome	2017-06-30	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exon 8 of the PTEN gene. It preserves the integrity of the reading frame. Deletion of exon 8 has been reported in an individual affected with Cowden or Cowden-like syndrome (PMID: 25669429). This variant is expected to result in the deletion of 75 amino acids (Asp268-Lys342) of the PTEN protein. This removes most of the C2 domain (amino acid residues 186-351), which contains several critical phosphorylation, ubiquitylation, and SUMOylation sites for regulating PTEN protein cellular location and function (PMID: 25448482, 25336918, 24905788). No functional studies have been performed to test the effects of this variant. However, experimental studies have shown that substitutions of key amino acid residues in this region affect the cellular location and function of the PTEN protein (PMID: 22713753, 11948419, 24905788), suggesting that deletion of this region of the PTEN protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000534404	SCV000645962	likely pathogenic	Epilepsy, childhood absence 2; Familial febrile seizures 8	2017-03-28	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 7-9 of the GABRG2 gene. The 5' boundary is likely confined to intron 7. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature, however, a few different truncating mutations that escape nonsense mediated decay have been determined to be pathogenic (PMID: 18566737, 23720301). Experimental studies have shown that those truncations resulted in truncated GABRG2 protein with loss of protein function, as well as varying degrees of dominant negative effect. In summary, this variant is a gross deletion that is not anticipated to result in nonsense mediated decay. Similar truncating mutations have been shown to be pathogenic, possibly through a dominant negative mechanism. However, the functional consequence of this particular deletion has not been studied. For these reasons, this variant has been classified as Likely Pathogenic.
Invitae	RCV000543941	SCV000646080	uncertain significance	Progressive familial heart block type 1B	2018-01-04	criteria provided, single submitter	clinical testing
Invitae	RCV000525016	SCV000646342	uncertain significance	Epilepsy, progressive myoclonic 3	2016-08-08	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 3-4 of the KCTD7 gene. The 5' boundary is likely confined to intron 2. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with a KCTD7-related disease. In summary, this variant is a sub-genic duplication encompassing the last 2 exons of KCTD7.Â¬â€ The exact location of this duplication has not been confirmed, and its affect on KCTD7 protein function is unknown. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000535350	SCV000647147	pathogenic	Familial adenomatous polyposis 1	2017-03-30	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing promoter 1B, promoter 1A and exons 2-6 of the APC gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 6 of the APC gene. This is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, exon-level deletions and loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000534711	SCV000647150	likely pathogenic	Familial adenomatous polyposis 1	2017-02-17	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 2-4 of the APC gene. The 5' end of this event is likely confined to intron 1 of the APC gene. The 3' boundary is likely confined to intron 4 of the APC gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. While this particular duplication has not been reported in the literature, loss-of-function variants including gross alterations in APC are known to be pathogenic (PMID: 23159591). In summary, sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. However, the exact location of this duplication has not been confirmed. Therefore, it has been classified as Likely Pathogenic.
Invitae	RCV000548705	SCV000647154	pathogenic	Familial adenomatous polyposis 1	2018-03-15	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 12-16 of the APC gene. The 5' boundary is likely confined to intron 11. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Deletions encompassing exons 12-16, also known as exons 11-15 in the literature, have been reported in individuals and families affected with familial adenomatous polyposis (PMID: 20223039, 16736293, 18487285). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000544295	SCV000648493	uncertain significance	Hereditary sensory and autonomic neuropathy type IIB	2017-07-28	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 5-9 of the FAM134B gene. The 5' boundary is likely confined to intron 4. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The exact location of this variant in the genome is unknown. This duplication has not been reported in the literature in individuals with FAM134B-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000548052	SCV000648588	uncertain significance	Neuroblastoma 3	2017-04-10	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 5 to 29 of the ALK gene. The 5' boundary is likely confined to intron 4. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with an ALK-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on ALK protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000554144	SCV000649258	uncertain significance	Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7	2017-08-14	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exons 22-24 of the SCN9A gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with SCN9A-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000533008	SCV000649259	uncertain significance	Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7	2017-07-29	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exon 23 of the SCN9A gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with SCN9A-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000547325	SCV000650689	uncertain significance	Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2	2017-03-30	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 7-16 of the TERT gene. The 5' boundary is likely confined to intron 6. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This gross duplication has not been reported in the literature in an individual with TERT-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on TERT protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance
Invitae	RCV000527830	SCV000650882	uncertain significance	Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant	2017-01-24	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exon 47 of the FLNC gene. While the exact position of the duplicated exon cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in an individual with a FLNC-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on FLNC protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000526488	SCV000652208	pathogenic	Rigidity and multifocal seizure syndrome, lethal neonatal	2017-11-01	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 2-4 of the BRAT1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 4 of the BRAT1 gene. This is expected to result in an absent or disrupted protein product. This deletion has not been reported in the literature in individuals with BRAT1-related disease. Loss-of-function variants in BRAT1 are known to be pathogenic (PMID: 22279524, 25500575). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000550477	SCV000652333	pathogenic	Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12	2017-07-21	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing most of exon 6 of the WWOX gene, including the intron 5-exon 6 boundary (c.517-68114_597dup). The duplicated copy of this region is in tandem. This likely creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in WWOX are known to be pathogenic (PMID: 25411445). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000528181	SCV000652334	likely pathogenic	Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12	2017-07-14	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing exon 7 of the WWOX gene. It preserves the integrity of the reading frame. This variant has been reported to segregate with epilepsy and developmental delay in a single family (Invitae). This deletion removes a portion of the WWOX gene that encodes the short-chain dehydrogenase (SDR) domain of the WWOX protein. While experimental studies have not been performed on this particular deletion, functional studies of larger deletions of the SDR domain (exons 5-8 and exons 6-8) have been shown to cause cellular mislocalization of the WWOX protein (PMID: 11719429). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae	RCV000529419	SCV000652572	pathogenic	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7	2016-12-05	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exon 2 of the ISPD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in ISPD are known to be pathogenic (PMID: 22522421). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000552669	SCV000652820	uncertain significance	Spinal muscular atrophy, distal, autosomal recessive, 5	2017-06-05	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exon 10 of the DNAJB2 gene. The 5' boundary is likely confined to intron 9. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. Â¬â€ There is evidence that this duplication is in tandem. This duplication has not been reported in the literature in individuals with a DNAJB2-related disease. Experimental studies are not available for this copy number variant, and the functional significance of the duplicated exon is currently unknown. In summary, this is a tandem duplication with uncertain impact on DNAJB2 function. Â¬â€ The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000526537	SCV000652832	uncertain significance	Combined oxidative phosphorylation deficiency 14	2017-06-06	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exon 2 of the FARS2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the FARS2 gene. This is expected to result in an absent or disrupted protein product. A similar gross deletion has been reported in the literature in an individual affected with early-infantile-encephalopathy with epilepsy (PMID: 27549011). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in FARS2 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance.
Invitae	RCV000552282	SCV000652857	uncertain significance	Joubert syndrome 20; Meckel syndrome, type 11	2017-06-07	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 4-6 of the TMEM231 gene. The 5' boundary is likely confined to intron 3. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The exact genomic location of this variant is unknown. Gross duplications have not been reported in the literature in individuals with a TMEM231-related disease. In summary, this variant has uncertain impact on TMEM231 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000540899	SCV000654659	pathogenic	Ciliary dyskinesia, primary, 28	2017-08-21	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exon 2 of the SPAG1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass the non-coding exon 1 and/or additional genes. The 3' boundary is likely confined to intron 2 of the SPAG1 gene. This is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPAG1 are known to be pathogenic. A deletion that includes the non-coding exon 1 and exon 2 has been reported in individuals affected with primary ciliary dyskinesia (PMID: 27637300, 24055112). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000530783	SCV000654833	uncertain significance	Arrhythmogenic right ventricular dysplasia, familial, 13	2017-04-07	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exon 7 of the CTNNA3 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with a CTNNA3-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on CTNNA3 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000560390	SCV000655110	uncertain significance	Melanoma, cutaneous malignant, susceptibility to, 10	2017-07-28	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 5-7 of the POT1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 7 of the POT1 gene. This is expected to result in an absent or disrupted protein product. This deletion has not been reported in the literature in individuals with POT1-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in POT1 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000530585	SCV000656556	pathogenic	Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	2017-05-16	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exon 6 of the MUSK gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MUSK are known to be pathogenic (PMID: 24122059). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000539865	SCV000656966	uncertain significance	Bethlem myopathy 1	2016-10-09	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 41-42 of the COL6A3 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This variant has not been reported in the literature in an individual with a COL6A3-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the impact of this deletion on COL6A3 protein function has not been established. Therefore, it has been classified as a Variant of Unknown Significance.
Invitae	RCV000551346	SCV000656967	uncertain significance	Bethlem myopathy 1	2017-06-16	criteria provided, single submitter	clinical testing	This variant is an in-frame deletion of the genomic region encompassing part of exon 9 and all of exons 10-14 of the COL6A3 gene (c.3859_6063+507). It preserves the integrity of the reading frame. This deletion has not been reported in the literature in individuals with a COL6A3-related disease. In summary, this variant has uncertain impact on COL6A3 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000534493	SCV000657478	uncertain significance	Familial colorectal cancer	2018-05-04	criteria provided, single submitter	clinical testing	This variant results in a copy number gain of the genomic regionÂ¬â€ encompassing the promoter of the GREM1 gene. The precise boundaries of this event are unknown. Two different tandem duplications (40 kb and 16 kb) spanning the 3' end of the SCG5 gene and the region upstream of the GREM1 gene have been reported in families with hereditary mixed polyposis syndrome (PMID: 22561515, 25992589, 26493165). However, the variant identified in this individual extends further upstream of those variants, and the impact of the additional duplicated sequences on GREM1 expression and function has not been established. In summary, duplications of the GREM1 promoter region have been reported in individuals with hereditary mixed polyposis syndrome. However, the 5' boundary of this particular variant in this individual extends further upstream of those two other duplications, and therefore the consequence of this particular variant is currently unknown. For these reasons, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000557666	SCV000657480	pathogenic	Cornelia de Lange syndrome 1	2017-02-27	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exon 34 of the NIPBL gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, loss-of-function variants, including gross deletions, in NIPBL are known to be pathogenic (PMID: 24038889). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000550726	SCV000657482	likely pathogenic	Cornelia de Lange syndrome 1	2016-10-31	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing most of exons 37 to 39 of the NIPBL gene. The 5' breakpoint of this deletion is 3 nucleotides from the beginning of exon 37, and the 3' breakpoint is within intron 39. This deletion is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a NIPBL-related disease. Multiple different missense substitutions (p.Leu2144Phe, p.Thr2146Pro, p.Leu2150Pro, p.Tyr2216Ser, p.Asn2236Ile) at codons within exons 37-39 have been classified as pathogenic (PMID: 17106445, 20358602, 15591270, 26701315, 24635725). This suggests that these residues are critical for NIPBL protein function, and that deletion of this region is deleterious. In summary, this is a novel deletion that eliminates important amino acid residues. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae	RCV000554601	SCV000658613	pathogenic	Laminin alpha 2-related dystrophy	2017-08-01	criteria provided, single submitter	clinical testing	This variant is an out-of-frame deletion of the genomic region encompassing exon 19 of the LAMA2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000538534	SCV000658615	pathogenic	Laminin alpha 2-related dystrophy	2016-11-30	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 56 of the LAMA2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMA2 are known to be pathogenic. A deletion encompassing exon 56, c.7750-1713_7899-2153del, has been reported in multiple individuals affected with congenital muscular dystrophy (PMID: 18700894). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000558514	SCV000658808	uncertain significance	Thoracic aortic aneurysm and aortic dissection	2018-01-19	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exons 6-9 of the SMAD3 gene. The 5' boundary is likely confined to intron 5. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with SMAD3-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae	RCV000532443	SCV000658809	likely pathogenic	Thoracic aortic aneurysm and aortic dissection	2017-03-31	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exon 9 of the SMAD3 gene. The 5' boundary is likely confined to intron 8. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in an individual with a SMAD3-related disease. This variant has been found to co-segregate with disease in a family with aortic aneurysm/aortic replacement (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, this variant is a rare deletion with unknown impact on protein function and it has been found to co-segregate with disease in one family. Therefore, this variant has been classified as Likely Pathogenic.
Invitae	RCV000556053	SCV000658945	likely pathogenic	Treacher Collins syndrome 1	2016-07-22	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 24-26 of the TCOF1 gene. The 5' boundary is likely confined to intron 23. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TCOF1 protein. This variant has not been reported in the literature in individuals with a TCOF1-related disease. Experimental studies have shown that the final 160-190 amino acids of the TCOF1 protein contain nuclear and nucleolar localization signals. Deletion of these residues leads to mislocalization of the protein in cell culture-based assays (PMID: 9811939, 9736782). In summary, this is a novel truncating variant that is expected to disrupt TCOF1 protein localization. However, in the absence of additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
Invitae	RCV000794161	SCV000933551	pathogenic	Biotinidase deficiency	2018-12-10	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg15Aspfs*55) in the BTD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BTD-related conditions. Loss-of-function variants in BTD are known to be pathogenic (PMID: 20083419). For these reasons, this variant has been classified as Pathogenic.
Invitae	RCV000807358	SCV000947406	uncertain significance	Biotinidase deficiency	2018-10-24	criteria provided, single submitter	clinical testing	This variant, c.1176_1178delCAC, results in the deletion of 1 amino acid(s) of the BTD protein (p.Thr393del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BTD-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Knight Diagnostic Laboratories,Oregon Health and Sciences University	RCV000454279	SCV000538074	pathogenic	Hypoparathyroidism retardation dysmorphism syndrome	2016-04-08	criteria provided, single submitter	clinical testing	The heterozygous deletion of exons 3 and 4 that was detected by a single copy loss of 16 oligonucleotide probes spanning approximately 7,842 bp in the TBCE gene, Hg19 chr1: g.(235575072_235577473)_(235582954_235583424)del (NM_ 003193) has not been previously reported in an affected individual. TBCE is the only gene implicated in HRD and suggests that this disorder has a single gene etiology. The out-of-frame deletion leads to premature protein truncation. Deletions and truncation variants are common mechanisms of disease; the c.155-166del12 in the TBCE gene is considered the most common pathogenic variant for this condition (Kerkeni E et al., 2015). Based on these criteria, this CNV is interpreted at pathogenic. We have confirmed the findings using a custom exon-centric microarray.
Knight Diagnostic Laboratories,Oregon Health and Sciences University	RCV000454326	SCV000538075	likely pathogenic	Infantile nephronophthisis	2016-04-19	criteria provided, single submitter	clinical testing	A heterozygous deletion of the 5â€™-UTR and exons 1 and 2 was detected by a single copy loss of 117 oligonucleotide probes spanning approximately 139,883 bp in the INVS gene, Hg19 chr9: g.( 102814578_102860399)_(102967421_102968415)del (NM_ 001318381). This variant has not been previously reported in an affected individual. Exon 2, which is deleted in this CNV, contains the start codon, implying a loss of the initiation codon. Several frameshift and nonsense variants in this gene have been described in affected individuals (Tory K et al., 2009) suggesting that loss of functions is mechanism of disease. Based on these criteria, this CNV is interpreted at Likely Pathogenic. We have confirmed the findings using a custom exon-centric microarray.
Knight Diagnostic Laboratories,Oregon Health and Sciences University	RCV000454211	SCV000538076	likely pathogenic	Fanconi anemia, complementation group A	2016-04-01	criteria provided, single submitter	clinical testing	The c.1627-?_2778+?del deletion in the FANCA gene is novel, however, similar sized deletions in the same genomic vicinity have been previously reported as pathogenic (deletion of exons 18-25: Moghrabi et al. 2009) (deletion of exons 21-29: Castella et al., 2011). Mutations in the coding region of FANCA account for approximately 60-70% of Fanconi Anemia Complementation Group A (FA-A) patients, and approximately 10% of pathogenic mutations are large, multi-exonic deletions (Castella et al., 2011). This deletion encompasses amino acids 543-926 in the FANCA protein, and removes a portion of the BRCA-interacting region (amino acids 740-1083) as well as three important phosphoserines (amino acids 849, 850 and 858) (Folias et al., 2002). In addition, this deletion also disrupts a known nuclear export sequence (amino acids 860-880), which would effectively abolish protein transport from the nucleus to the cytoplasm (Ferrer et al., 2005). Therefore, this novel 11-exon deletion is expected to severely truncate the FANCA protein and compromise its function. The collective evidence supports the classification of the c.1627-?_2778+?del as a recessive likely pathogenic variant for Fanconi Anemia, Complementation Group A.
Knight Diagnostic Laboratories,Oregon Health and Sciences University	RCV000454303	SCV000538077	likely pathogenic	Fanconi anemia, complementation group A	2016-04-01	criteria provided, single submitter	clinical testing	The c.1627-?_2778+?del deletion in the FANCA gene is novel, however, similar sized deletions in the same genomic vicinity have been previously reported as pathogenic (deletion of exons 18-25: Moghrabi et al. 2009) (deletion of exons 21-29: Castella et al., 2011). Mutations in the coding region of FANCA account for approximately 60-70% of Fanconi Anemia Complementation Group A (FA-A) patients, and approximately 10% of pathogenic mutations are large, multi-exonic deletions (Castella et al., 2011). This deletion encompasses amino acids 543-926 in the FANCA protein, and removes a portion of the BRCA-interacting region (amino acids 740-1083) as well as three important phosphoserines (amino acids 849, 850 and 858) (Folias et al., 2002). In addition, this deletion also disrupts a known nuclear export sequence (amino acids 860-880), which would effectively abolish protein transport from the nucleus to the cytoplasm (Ferrer et al., 2005). Therefore, this novel 11-exon deletion is expected to severely truncate the FANCA protein and compromise its function. The collective evidence supports the classification of the c.1627-?_2778+?del as a recessive likely pathogenic variant for Fanconi Anemia, Complementation Group A.
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana	RCV000503510	SCV000590913	pathogenic	Blepharophimosis, ptosis, and epicanthus inversus	2017-08-22	no assertion criteria provided	clinical testing	The deletion is 278 kb uspstream of FOXL2, and affects the regulatory elements of this gene, causing BPES and additional clinical signs like microcephaly.
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn	RCV000417195	SCV000262654	likely pathogenic	Currarino triad		criteria provided, single submitter	research	Large de novo duplication in a patient with negative family history.
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine	RCV000202645	SCV000256747	pathogenic	CHARGE association	2013-12-01	criteria provided, single submitter	research	Pathogenic based on a complex genomic rearrangement resulting in deletion of exon 7 of CHD7 in an 8-year-old female with a clinical phenotype consistent with CHARGE (Tetralogy of Fallot, retinal colobomas, sensorineural hearing loss, choanal atresia).
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine	RCV000210429	SCV000256763	pathogenic	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	2014-07-16	criteria provided, single submitter	research	segregates with the phenotype in an affected family
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine	RCV000203452	SCV000258328	pathogenic	Spastic paraplegia 4, autosomal dominant	2014-08-07	criteria provided, single submitter	research
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine	RCV000203475	SCV000258329	pathogenic	Spastic paraplegia 4, autosomal dominant	2014-08-07	criteria provided, single submitter	research
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine	RCV000203496	SCV000258330	pathogenic	Spastic paraplegia 4, autosomal dominant	2014-08-07	criteria provided, single submitter	research
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine	RCV000203458	SCV000258331	pathogenic	Spastic paraplegia 4, autosomal dominant	2014-08-07	criteria provided, single submitter	research
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine	RCV000203474	SCV000258332	pathogenic	Spastic paraplegia 4, autosomal dominant	2014-08-07	criteria provided, single submitter	research
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine	RCV000203463	SCV000258334	pathogenic	Spastic paraplegia 4, autosomal dominant	2014-08-07	criteria provided, single submitter	research
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine	RCV000203486	SCV000258335	pathogenic	Spastic paraplegia 4, autosomal dominant	2014-08-07	criteria provided, single submitter	research
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine	RCV000203484	SCV000258338	pathogenic	Spastic paraplegia 4, autosomal dominant	2014-08-07	criteria provided, single submitter	research
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine	RCV000203447	SCV000258339	pathogenic	Spastic paraplegia 4, autosomal dominant	2014-08-07	criteria provided, single submitter	research
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine	RCV000203483	SCV000258341	pathogenic	Spastic paraplegia 4, autosomal dominant	2014-08-07	criteria provided, single submitter	research
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine	RCV000203451	SCV000258342	pathogenic	Spastic paraplegia 4, autosomal dominant	2014-08-07	criteria provided, single submitter	research
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine