ClinVar Miner

Variants studied for GM2 gangliosidosis

Included ClinVar conditions (4):
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
105 101 165 43 31 2 406

Gene and significance breakdown #

Total genes and gene combinations: 4
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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
HEXB 17 31 43 5 5 0 95
GM2A 8 2 32 10 19 0 71
GFM2, HEXB 0 0 5 1 0 0 6

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Counsyl 11 86 89 24 0 0 210
Illumina Clinical Services Laboratory,Illumina 2 2 66 18 25 0 113
OMIM 48 0 0 0 0 0 48
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 27 9 0 0 0 0 36
Invitae 15 2 9 1 6 1 34
Integrated Genetics/Laboratory Corporation of America 26 5 0 0 0 0 31
Fulgent Genetics 6 1 1 0 0 0 8
Baylor Miraca Genetics Laboratories, 4 0 1 0 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 2 0 0 0 5
HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 1 2 0 4
Genetic Services Laboratory, University of Chicago 2 1 0 0 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
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
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 0 2
PreventionGenetics 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 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
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 0 0 1

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