ClinVar Miner

Variants studied for Fabry disease

Coded as:
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 other not provided total
203 103 122 68 13 1 3 465

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
GLA, RPL36A-HNRNPH2 191 103 121 68 13 1 3 452
GLA 12 0 0 0 0 0 0 12
MYLK2 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 79 23 72 41 4 1 0 220
Integrated Genetics/Laboratory Corporation of America 81 51 0 0 0 0 0 132
Color Health, Inc 1 3 41 39 6 0 0 90
OMIM 56 0 1 0 0 0 0 57
Albrecht-Kossel-Institute,Medical University Rostock 21 9 16 0 0 0 0 46
Broad Institute Rare Disease Group, Broad Institute 2 3 19 5 0 0 0 29
Natera, Inc. 1 0 8 4 3 0 0 16
Illumina Clinical Services Laboratory,Illumina 0 1 3 6 4 0 0 14
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 5 0 0 0 0 0 9
Mendelics 1 1 2 3 1 0 0 8
CeMIA 2 4 1 0 0 0 0 7
Fulgent Genetics,Fulgent Genetics 5 0 0 0 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 1 2 0 1 0 0 4
Blueprint Genetics 1 2 1 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 2 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 3 0 0 0 4
Counsyl 1 2 0 0 0 0 0 3
GeneReviews 1 0 2 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 2 1 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Baylor Genetics 2 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 0 0 0 0 1
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 0 0 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
University of Iowa Renal Genetics Clinic,University of Iowa 0 0 0 1 0 0 0 1
Indian Institute of Integrative Medicine,Council of Scientific and Industrial Research 0 0 1 0 0 0 0 1
Center for Inherited Cardiovascular Diseases,IRCCS Fondazione Policlinico San Matteo 1 0 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 0 1
Biochemistry Metabolomics and Proteomics Laboratory,Necker Enfants Malades Hospital 0 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 1 0 0 0 0 1
Precision Medicine Center,Zhengzhou University 0 1 0 0 0 0 0 1

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