If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
328
|
139
|
542
|
275
|
135
|
7
|
1352
|
Gene and significance breakdown #
Total genes and gene combinations: 39
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
BTK
|
165
|
43
|
158
|
191
|
49
|
0 |
594
|
LHX3
|
13
|
8
|
75
|
18
|
11
|
0 |
115
|
PROP1
|
19
|
39
|
40
|
12
|
11
|
5
|
100
|
TBX19
|
13
|
7
|
59
|
3
|
19
|
0 |
99
|
HESX1
|
17
|
4
|
56
|
21
|
5
|
0 |
92
|
GHRHR
|
14
|
15
|
37
|
4
|
9
|
0 |
77
|
ACBD6, LHX4
|
5
|
0 |
26
|
9
|
11
|
1
|
52
|
POU1F1
|
26
|
9
|
17
|
0 |
1
|
1
|
50
|
GH-LCR, GH1
|
22
|
4
|
15
|
5
|
1
|
0 |
45
|
OTX2
|
1
|
1
|
25
|
4
|
5
|
0 |
35
|
LHX4
|
2
|
1
|
15
|
6
|
4
|
0 |
25
|
RNPC3
|
9
|
1
|
6
|
0 |
2
|
0 |
18
|
SOX3
|
2
|
0 |
3
|
1
|
1
|
0 |
7
|
CHMP2B, POU1F1
|
0 |
0 |
0 |
1
|
5
|
0 |
5
|
RPE65
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
intergenic
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
MED13
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
ROBO1
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
CRIPT
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GH1
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
LOC108281134, SOX3
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
RALGAPB
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
APPL1, ASB14, HESX1, IL17RD
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ARID1A
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX6, BTK, CENPI, CSTF2, DRP2, GLA, HNRNPH2, NOX1, NXF5, PCDH19, RPL36A, RPL36A-HNRNPH2, SRPX2, SYTL4, TAF7L, TIMM8A, TMEM35A, TNMD, TRMT2B, TSPAN6, XKRX
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ATP6AP1, CTAG1A, CTAG1B, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
BRCA2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BTK, GLA, HNRNPH2, RPL36A, RPL36A-HNRNPH2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BTK, GLA, RPL36A, RPL36A-HNRNPH2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
BTK, TIMM8A
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CSHL1, GH-LCR, GH1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DNA2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GLI2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC108281177, SOX2, SOX2-OT
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC129931062, RNPC3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PAH
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
POC1A
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SHH
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
XRCC4
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
171
|
41
|
192
|
201
|
48
|
0 |
653
|
Illumina Laboratory Services, Illumina
|
1
|
2
|
249
|
33
|
69
|
0 |
354
|
OMIM
|
107
|
0 |
0 |
0 |
0 |
0 |
107
|
Natera, Inc.
|
6
|
2
|
22
|
19
|
11
|
0 |
60
|
Fulgent Genetics, Fulgent Genetics
|
13
|
18
|
15
|
11
|
2
|
0 |
59
|
Baylor Genetics
|
16
|
15
|
13
|
0 |
0 |
0 |
44
|
Counsyl
|
3
|
18
|
7
|
0 |
1
|
0 |
29
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
15
|
6
|
0 |
1
|
1
|
0 |
23
|
Revvity Omics, Revvity
|
5
|
4
|
11
|
0 |
0 |
0 |
20
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
20
|
0 |
20
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
9
|
0 |
8
|
1
|
1
|
0 |
19
|
3billion
|
9
|
4
|
3
|
2
|
0 |
0 |
18
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
4
|
6
|
6
|
1
|
0 |
0 |
17
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
3
|
0 |
12
|
0 |
0 |
0 |
15
|
Endocrinology Clinic, Seth G.S. Medical College
|
5
|
7
|
0 |
0 |
0 |
0 |
12
|
Mendelics
|
1
|
0 |
0 |
6
|
1
|
0 |
8
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
2
|
5
|
0 |
0 |
0 |
8
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
2
|
4
|
2
|
0 |
0 |
0 |
8
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
0 |
6
|
0 |
0 |
0 |
0 |
6
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Human Developmental Genetics Laboratory, Medical College of Wisconsin
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron
|
0 |
1
|
0 |
2
|
0 |
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Shaikh Laboratory, University of Colorado
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Myriad Genetics, Inc.
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
New York Genome Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Department of Pediatric Endocrinology, Ondokuz Mayis University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Department of Pediatrics, Taipei Veterans General Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre de Genetique Humaine, Institut de Pathologie et de Genetique
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Hehr Laboratory, Center for Human Genetics Regensburg
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenePathDx, GenePath diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Stanford Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Moosajee Lab, UCL Institute of Ophthalmology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Istanbul Faculty of Medicine, Istanbul University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Shieh Lab, University of California, San Francisco
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center of Human Genetics, Hôpital Erasme
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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