ClinVar Miner

Variants studied for Tay-Sachs disease

Included ClinVar conditions (2):
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 total
81 68 85 27 7 2 235

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other total
HEXA 80 68 85 27 7 2 234
GM2A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Counsyl 8 56 63 23 0 0 150
OMIM 41 0 0 0 0 0 41
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 26 7 0 0 0 0 33
Illumina Clinical Services Laboratory,Illumina 1 1 22 3 4 0 31
Integrated Genetics/Laboratory Corporation of America 21 5 0 0 0 0 26
Invitae 10 2 3 1 3 1 20
Fulgent Genetics 5 0 0 0 0 0 5
Baylor Miraca Genetics Laboratories, 4 0 0 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 1 0 0 0 4
HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 4
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 3 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 2 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1 2
Sema4,Sema4 1 1 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 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 1

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