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
129 47 49 22 9 1 3 237

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 116 47 48 22 9 1 3 223
GLA 13 0 0 0 0 0 0 13
MYLK2 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 35 11 26 13 3 1 0 89
OMIM 56 0 1 0 0 0 0 57
Integrated Genetics/Laboratory Corporation of America 33 18 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
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
GeneReviews 1 0 2 0 0 0 0 3
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 0 0 2
Counsyl 0 1 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
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

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.