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
85 72 95 28 8 2 247

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 84 72 95 28 8 2 246
GM2A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Counsyl 9 59 63 23 0 0 154
Invitae 23 2 15 0 3 2 45
OMIM 41 0 0 0 0 0 41
Foundation for Research in Genetics and Endocrinology, FRIGE's 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
Fulgent Genetics,Fulgent Genetics 5 0 0 0 0 0 5
Baylor Genetics 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, HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 4
Natera Inc 0 2 0 0 2 0 4
Mendelics 2 0 0 1 0 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 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
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
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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