ClinVar Miner

Variants in gene HEXB

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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 not provided total
141 126 218 401 47 1 1 830

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Sandhoff disease 131 116 157 381 21 0 1 730
not provided 20 16 28 28 38 1 0 124
Inborn genetic diseases 2 1 52 1 0 0 0 56
not specified 0 0 25 7 14 0 0 43
HEXB-related disorder 1 0 1 5 3 0 0 10
Sandhoff disease, infantile form 5 0 0 0 0 0 0 5
Sandhoff disease, adult form 3 0 0 0 0 0 0 3
Sandhoff disease, juvenile form 3 0 0 0 0 0 0 3
See cases 0 3 0 0 0 0 0 3
HEXB POLYMORPHISM 0 0 0 0 2 0 0 2
HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM 0 0 0 0 1 0 0 1
Hexosaminidase B (Paris) 1 0 0 0 0 0 0 1
Sandhoff disease, chronic 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 116 25 89 379 16 0 0 625
GeneDx 10 7 10 15 35 0 0 77
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 23 18 23 3 3 0 0 70
Counsyl 3 29 24 1 0 0 0 57
Ambry Genetics 2 1 52 1 0 0 0 56
Natera, Inc. 7 5 25 5 13 0 0 55
Fulgent Genetics, Fulgent Genetics 18 23 2 1 1 0 0 45
Illumina Laboratory Services, Illumina 1 1 20 3 8 0 0 33
Eurofins Ntd Llc (ga) 8 4 9 1 7 1 0 30
Breakthrough Genomics, Breakthrough Genomics 0 0 2 7 19 0 0 28
Myriad Genetics, Inc. 1 25 0 0 0 0 0 26
CeGaT Center for Human Genetics Tuebingen 4 4 6 10 1 0 0 25
PreventionGenetics, part of Exact Sciences 2 0 1 6 14 0 0 23
OMIM 13 0 0 0 3 0 0 16
Mayo Clinic Laboratories, Mayo Clinic 3 1 7 0 4 0 0 15
Baylor Genetics 7 0 3 0 0 0 0 10
Revvity Omics, Revvity 5 2 3 0 0 0 0 10
Genome-Nilou Lab 0 1 1 0 8 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 2 1 4 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 1 1 1 2 1 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 1 0 0 0 0 0 6
3billion 3 2 1 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 1 3 1 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 2 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 1 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 0 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 0 0 0 0 0 3
Mendelics 0 0 0 1 1 0 0 2
Bionano Laboratories 2 0 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 2 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 2 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 1

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