ClinVar Miner

Variants studied for Tay-Sachs disease

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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 affects other not provided total
193 152 364 456 25 36 2 1 1083

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
HEXA 190 151 362 456 25 35 2 1 1078
ADPGK, ARIH1, BBS4, CD276, CELF6, GOLGA6B, GRAMD2A, HCN4, HEXA, INSYN1, LOXL1, MYO9A, NEO1, NPTN, NR2E3, PARP6, PKM, REC114, SENP8, TBC1D21, TMEM202 1 0 0 0 0 0 0 0 1
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, HEXA, NEO1, TMEM202 0 0 1 0 0 0 0 0 1
GM2A 1 0 0 0 0 0 0 0 1
HEXA, LOC130057475 1 1 0 0 0 1 0 0 1
SETX 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Invitae 166 30 293 434 14 0 2 0 939
Counsyl 4 55 60 23 0 0 0 0 142
Natera, Inc. 35 10 48 9 12 0 0 0 114
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 45 23 0 0 0 0 0 0 68
Myriad Genetics, Inc. 8 30 2 0 0 0 0 0 40
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 29 9 1 0 0 0 0 0 39
OMIM 0 0 0 0 0 36 0 0 36
Illumina Laboratory Services, Illumina 3 1 24 3 4 0 0 0 35
Fulgent Genetics, Fulgent Genetics 9 5 8 1 0 0 0 0 23
Revvity Omics, Revvity 10 5 3 0 0 0 0 0 18
Genome-Nilou Lab 0 0 3 3 8 0 0 0 14
Baylor Genetics 7 0 0 0 0 0 0 0 7
MGZ Medical Genetics Center 4 0 3 0 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 1 0 0 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 2 1 4 0 0 0 0 0 7
Mendelics 3 2 0 1 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 2 0 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 1 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 1 0 0 0 0 0 4
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 3 1 0 0 0 0 0 4
3billion 4 0 0 0 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 1 0 3
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 3 0 0 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 0 0 3
Sema4, Sema4 1 1 0 0 0 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 1 1 0 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 1 0 0 0 0 0 0 2
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 0 0 2
DASA 2 0 0 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 0 0 1 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 0 1

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