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
169 80 97 49 12 1 3 371

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
GLA, RPL36A-HNRNPH2 156 80 96 49 12 1 3 357
GLA 12 0 0 0 0 0 0 12
GLA, SRPX2 1 0 0 0 0 0 0 1
MYLK2 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 56 20 45 18 4 1 0 144
Integrated Genetics/Laboratory Corporation of America 62 36 0 0 0 0 0 98
Color 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
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
Fulgent Genetics,Fulgent Genetics 5 0 0 0 0 0 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 2 0 1 0 0 4
Blueprint Genetics 1 2 1 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
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 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
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

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