ClinVar Miner

Variants studied for Fabry disease

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
853 490 504 244 33 1 6 1879

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
GLA, RPL36A-HNRNPH2 843 489 501 244 32 1 6 1865
GLA 6 0 0 0 0 0 0 6
GLA, HNRNPH2, RPL36A-HNRNPH2 1 1 2 0 1 0 0 4
BTK, DRP2, GLA, RPL36A, RPL36A-HNRNPH2, TAF7L, TIMM8A 1 0 0 0 0 0 0 1
BTK, GLA, HNRNPH2, RPL36A, RPL36A-HNRNPH2 1 0 0 0 0 0 0 1
GALC 1 0 0 0 0 0 0 1
MYLK2 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Genomenon, Inc, Genomenon, Inc 706 352 262 16 21 0 0 1357
Labcorp Genetics (formerly Invitae), Labcorp 233 69 235 199 12 1 0 749
Color Diagnostics, LLC DBA Color Health 11 6 88 69 6 0 0 180
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 111 62 0 0 0 0 0 173
Genome-Nilou Lab 79 25 43 15 10 0 0 172
All of Us Research Program, National Institutes of Health 11 5 72 20 0 0 0 108
Natera, Inc. 10 7 39 10 5 0 0 71
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
3billion 11 13 9 2 0 0 0 35
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 3 18 5 0 0 0 29
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 10 6 0 0 0 0 0 16
Mendelics 6 3 2 3 1 0 0 15
Illumina Laboratory Services, Illumina 0 1 1 5 4 0 0 11
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 6 1 0 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 2 1 0 0 0 8
CeMIA 2 4 1 0 0 0 0 7
Myriad Genetics, Inc. 1 5 0 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 2 0 0 0 0 4
Blueprint Genetics 1 2 1 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 3 0 1 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 2 0 1 0 0 4
Variantyx, Inc. 1 3 0 0 0 0 0 4
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
Clinical Genetics Laboratory, Skane University Hospital Lund 3 0 0 0 0 0 0 3
Counsyl 1 2 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 0 3 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 1 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 0 3
MGZ Medical Genetics Center 1 0 2 0 0 0 0 3
MVZ Martinsried, Medicover Genetics 2 0 1 0 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 1 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 0 2
Precision Medicine Center, Zhengzhou University 0 2 0 0 0 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 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
Center for Inherited Cardiovascular Diseases, IRCCS Fondazione Policlinico San Matteo 1 0 0 0 0 0 0 1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 0 0 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
First Hospital of Lanzhou University, Lanzhou University 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 0 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 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
Kidney and Pancreas Transplant Center, University of Texas at Austin 0 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
Nephrology Department, Antalya Training and Research Hospital 0 1 0 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
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 0 0 0 0 1 0 0 1
Stanford Starfish Project, Stanford University 1 0 0 0 0 0 0 1
The Laboratory of Cardiovascular Diseases, The First Hospital of LanZhou University 0 1 0 0 0 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 1

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