ClinVar Miner

Variants in gene HEXA

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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 other not provided total
112 99 138 61 20 2 1 353

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Tay-Sachs disease 101 91 123 37 11 2 1 308
not provided 18 7 19 31 11 2 0 81
not specified 2 0 10 8 11 0 0 26
none provided 0 1 1 2 5 0 0 9
Tay-Sachs disease, B1 variant 5 0 0 0 0 0 0 5
Inborn genetic diseases 3 1 0 0 0 0 0 4
Gm2-gangliosidosis, late onset 3 0 0 0 0 0 0 3
Tay-Sachs disease, variant AB; Tay-Sachs disease 3 0 0 0 0 0 0 3
Gm2-gangliosidosis, chronic 2 0 0 0 0 0 0 2
Gm2-gangliosidosis, juvenile 2 0 0 0 0 0 0 2
Gm2-gangliosidosis, subacute 2 0 0 0 0 0 0 2
Intellectual disability 0 0 1 1 0 0 0 2
Beta-hexosaminidase a, pseudodeficiency of 1 0 0 0 0 0 0 1
Global developmental delay 1 0 0 0 0 0 0 1
Gm2-gangliosidosis, adult 1 0 0 0 0 0 0 1
Gm2-gangliosidosis, adult-onset 1 0 0 0 0 0 0 1
Gm2-gangliosidosis, variant b1 1 0 0 0 0 0 0 1
HEXA, Czechoslovakian allele 1 0 0 0 0 0 0 1
Hexa, dn allele 1 0 0 0 0 0 0 1
Tay-sachs disease, juvenile 1 0 0 0 0 0 0 1
Tay-sachs disease, juvenile/adult 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Counsyl 4 57 63 23 0 0 0 147
Invitae 45 7 36 34 8 2 0 132
OMIM 56 0 0 0 0 0 0 56
Integrated Genetics/Laboratory Corporation of America 30 8 7 4 3 0 0 52
Illumina Clinical Services Laboratory,Illumina 3 1 24 3 4 0 0 35
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 26 7 0 0 0 0 0 33
Natera, Inc. 0 2 18 5 4 0 0 29
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 8 0 6 0 9 2 0 25
GeneDx 16 4 1 0 3 0 0 24
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 1 6 3 6 0 0 18
Myriad Women's Health, Inc. 7 11 0 0 0 0 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 3 2 7 1 0 0 0 13
PreventionGenetics,PreventionGenetics 0 0 0 2 9 0 0 11
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 1 5 0 0 7
Fulgent Genetics,Fulgent Genetics 5 0 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 1 0 0 0 0 5
Baylor Genetics 4 0 0 0 0 0 0 4
Genetic Services Laboratory,University of Chicago 1 0 0 3 0 0 0 4
Ambry Genetics 3 1 0 0 0 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 2 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 1 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 1 1 0 3
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 0 3
Mendelics 2 0 0 1 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 0 1 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 2 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 0 3
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 2 1 0 0 0 0 3
Sema4, Sema4 1 1 0 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 0 2
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 2 0 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 1 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 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 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 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 0 1 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 0 1 1

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