ClinVar Miner

Variants in gene HEXA

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Gene type:
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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
203 162 389 472 41 35 2 5 1133

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Tay-Sachs disease 190 151 361 456 25 35 2 1 1077
not provided 30 17 36 25 31 0 2 4 127
Inborn genetic diseases 9 4 23 15 0 0 0 0 51
not specified 2 0 30 8 12 0 0 0 48
HEXA-related condition 6 1 0 9 0 0 0 0 16
Tay-Sachs disease, B1 variant 5 0 0 0 0 0 0 0 5
Gm2-gangliosidosis, late onset 3 0 0 0 0 0 0 0 3
Tay-Sachs disease, variant AB; Tay-Sachs disease 3 0 0 0 0 0 0 0 3
Gm2-gangliosidosis, chronic 2 0 0 0 0 0 0 0 2
Gm2-gangliosidosis, juvenile 2 0 0 0 0 0 0 0 2
Gm2-gangliosidosis, subacute 2 0 0 0 0 0 0 0 2
Intellectual disability 0 0 1 1 0 0 0 0 2
Beta-hexosaminidase a, pseudodeficiency of 1 0 0 0 0 0 0 0 1
GM2-ganglioside accumulation 1 0 0 0 0 0 0 0 1
GM2-gangliosidosis, adult-onset 1 0 0 0 0 0 0 0 1
Global developmental delay 1 0 0 0 0 0 0 0 1
Gm2-gangliosidosis, adult 1 0 0 0 0 0 0 0 1
Gm2-gangliosidosis, variant b1 1 0 0 0 0 0 0 0 1
Hexa, dn allele 1 0 0 0 0 0 0 0 1
Leukodystrophy; Seizure; Hearing impairment 0 1 0 0 0 0 0 0 1
Neurodevelopmental abnormality 0 0 1 0 0 0 0 0 1
Tay-sachs disease, juvenile 1 0 0 0 0 0 0 0 1
Tay-sachs disease, juvenile/adult 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Invitae 165 30 292 434 14 0 2 0 937
Counsyl 4 54 60 23 0 0 0 0 141
Natera, Inc. 35 10 48 9 12 0 0 0 114
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 44 23 27 4 5 0 0 0 103
GeneDx 22 7 8 13 28 0 0 0 78
OMIM 19 0 0 0 0 35 0 0 54
Ambry Genetics 9 4 23 15 0 0 0 0 51
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
Illumina Laboratory Services, Illumina 3 1 24 3 4 0 0 0 35
CeGaT Center for Human Genetics Tuebingen 8 4 9 8 0 0 0 0 29
PreventionGenetics, part of Exact Sciences 6 1 0 11 9 0 0 0 27
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 2 9 5 7 0 0 0 26
Eurofins Ntd Llc (ga) 8 0 6 0 9 0 2 0 25
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
Quest Diagnostics Nichols Institute San Juan Capistrano 3 1 6 2 4 0 0 0 16
Genome-Nilou Lab 0 0 3 3 8 0 0 0 14
Mayo Clinic Laboratories, Mayo Clinic 4 1 1 1 5 0 0 0 12
Baylor Genetics 7 0 0 0 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 1 0 0 0 0 0 0 7
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 1 4 0 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 2 1 0 3 0 0 0 0 6
MGZ Medical Genetics Center 4 0 2 0 0 0 0 0 6
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 2 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 2 0 0 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 1 2 0 0 0 5
Clinical Genetics, Academic Medical Center 0 0 0 0 4 0 0 0 4
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 1 0 0 0 4
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 0 4 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 1 0 0 0 1 0 1 0 3
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 0 1 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 0 0 0 0 0 0 3
Sema4, Sema4 1 1 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 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 1 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
DASA 2 0 0 0 0 0 0 0 2
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
Institute of Human Genetics, University of Wuerzburg 0 0 1 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 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
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research 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
Clinical Genetics Laboratory, Noor Gene 1 0 0 0 0 0 0 0 1

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