ClinVar Miner

Variants in gene combination GLA, RPL36A-HNRNPH2

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 drug response other not provided total
268 135 200 99 24 46 1 4 633

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Fabry disease 191 103 121 68 13 0 1 3 452
not provided 140 36 65 17 11 0 1 0 257
not specified 0 0 37 37 12 0 0 1 80
Deoxygalactonojirimycin response 0 0 0 0 0 46 0 0 46
Cardiovascular phenotype 3 1 4 7 1 0 0 0 16
Cardiomyopathy 1 2 6 1 2 0 0 0 12
Hypertrophic cardiomyopathy 0 1 2 4 1 0 0 0 8
Fabry disease, cardiac variant 5 0 1 0 0 0 0 0 6
Primary familial hypertrophic cardiomyopathy 1 3 2 0 0 0 0 0 6
none provided 0 0 0 2 2 0 0 0 4
Fabry disease; Hypertrophic cardiomyopathy 2 1 0 0 0 0 0 0 3
Familial hypertrophic cardiomyopathy 1 0 0 2 0 0 0 0 0 2
Sudden unexplained death 0 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Invitae 78 23 72 42 4 0 1 0 220
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 125 25 39 1 8 0 1 0 199
Integrated Genetics/Laboratory Corporation of America 81 51 24 9 4 0 0 0 169
GeneDx 30 5 19 30 9 0 0 0 93
Color Health, Inc 1 3 41 39 6 0 0 0 90
OMIM 50 0 2 0 0 0 0 0 52
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 6 6 17 13 5 0 0 1 48
Albrecht-Kossel-Institute,Medical University Rostock 21 9 16 0 0 46 0 0 46
Broad Institute Rare Disease Group, Broad Institute 2 3 19 5 0 0 0 0 29
Ambry Genetics 3 1 4 7 1 0 0 0 16
Natera, Inc. 1 0 8 4 3 0 0 0 16
Illumina Clinical Services Laboratory,Illumina 0 1 4 7 4 0 0 0 14
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 2 6 1 1 0 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 6 3 0 0 0 0 11
Blueprint Genetics 3 3 3 0 0 0 0 0 9
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 3 4 1 0 0 0 0 9
PreventionGenetics, PreventionGenetics 0 0 0 3 5 0 0 0 8
Mendelics 1 1 2 3 1 0 0 0 8
Gharavi Laboratory,Columbia University 2 1 4 1 0 0 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 1 5 0 0 0 7
CeMIA 2 4 1 0 0 0 0 0 7
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 1 4 0 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 2 2 0 0 0 5
Fulgent Genetics,Fulgent Genetics 5 0 0 0 0 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 1 1 1 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 1 2 0 1 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 2 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 3 0 0 0 0 4
Counsyl 1 2 0 0 0 0 0 0 3
GeneReviews 1 0 2 0 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 2 1 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
Baylor Genetics 2 0 0 0 0 0 0 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 2 0 0 0 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 1 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 0 1
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 0 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 0 1
University of Iowa Renal Genetics Clinic,University of Iowa 0 0 0 1 0 0 0 0 1
Indian Institute of Integrative Medicine,Council of Scientific and Industrial Research 0 0 1 0 0 0 0 0 1
Center for Inherited Cardiovascular Diseases,IRCCS Fondazione Policlinico San Matteo 1 0 0 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 0 0 1
Biochemistry Metabolomics and Proteomics Laboratory,Necker Enfants Malades Hospital 0 1 0 0 0 0 0 0 1
Nilou-Genome Lab 0 0 1 0 0 0 0 0 1
Precision Medicine Center,Zhengzhou University 0 1 0 0 0 0 0 0 1

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