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
304 164 268 197 24 1 6 861

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
GLA, RPL36A-HNRNPH2 296 163 266 197 23 1 6 850
GLA 6 0 0 0 0 0 0 6
GLA, HNRNPH2, RPL36A-HNRNPH2 1 1 1 0 1 0 0 3
BTK, DRP2, GLA, RPL36A, RPL36A-HNRNPH2, TAF7L, TIMM8A 1 0 0 0 0 0 0 1
MYLK2 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 180 52 181 168 12 1 0 594
Genome-Nilou Lab 79 24 44 15 10 0 0 172
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 93 55 0 0 0 0 0 148
Color Diagnostics, LLC DBA Color Health 5 5 62 48 6 0 0 126
All of Us Research Program, National Institutes of Health 6 2 54 14 0 0 0 76
OMIM 56 0 1 0 0 0 0 57
Fulgent Genetics, Fulgent Genetics 19 8 17 5 1 0 0 50
Albrecht-Kossel-Institute, Medical University Rostock 21 9 16 0 0 0 0 46
Natera, Inc. 5 1 24 9 5 0 0 44
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 3 19 5 0 0 0 29
3billion 6 11 5 2 0 0 0 24
Illumina Laboratory Services, Illumina 0 0 3 6 4 0 0 13
Mendelics 4 2 2 3 1 0 0 12
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 6 1 0 0 0 0 11
CeMIA 2 4 1 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 1 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 2 0 1 0 0 4
Centogene AG - the Rare Disease Company 3 0 1 0 0 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
Myriad Genetics, Inc. 0 4 0 0 0 0 0 4
MGZ Medical Genetics Center 1 0 2 0 0 0 0 3
Counsyl 1 2 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 0 3 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
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
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 0 0 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 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
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 1
Biochemistry Metabolomics and Proteomics Laboratory, Necker Enfants Malades Hospital 0 1 0 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 1 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 0 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
The Laboratory of Cardiovascular Diseases, The First Hospital of LanZhou University 0 1 0 0 0 0 0 1

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