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
133 48 49 16 9 1 3 235

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
GLA, RPL36A-HNRNPH2 121 48 48 16 9 1 3 222
GLA 12 0 0 0 0 0 0 12
MYLK2 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 35 11 25 2 1 1 0 75
OMIM 56 0 1 0 0 0 0 57
Integrated Genetics/Laboratory Corporation of America 34 17 0 0 0 0 0 51
Albrecht-Kossel-Institute,Medical University Rostock 21 9 16 0 0 0 0 46
Color 0 1 3 6 5 0 0 15
Illumina Clinical Services Laboratory,Illumina 0 1 2 5 1 0 0 9
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 5 0 0 0 0 0 8
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
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
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
Center for Inherited Cardiovascular Diseases,IRCCS Fondazione Policlinico San Matteo 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.