ClinVar Miner

Variants studied for Sandhoff disease

Coded as:
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 not provided total
126 95 160 374 22 1 708

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 not provided total
HEXB 122 95 154 372 21 1 696
GFM2, HEXB 1 0 5 2 1 0 8
HEXB, LOC129994060, LOC129994061, LOC129994062 3 0 0 0 0 0 3
ANKDD1B, ANKRD31, CERT1, FAM169A, GCNT4, GFM2, HEXB, HMGCR, NSA2, POC5, POLK 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 115 24 88 370 17 0 614
Counsyl 3 29 27 1 0 0 60
Natera, Inc. 7 5 25 5 13 0 55
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 14 23 0 0 0 0 37
Illumina Laboratory Services, Illumina 1 1 21 5 8 0 36
Myriad Genetics, Inc. 1 25 0 0 0 0 26
Fulgent Genetics, Fulgent Genetics 11 2 2 1 1 0 17
Baylor Genetics 7 0 3 0 0 0 10
Revvity Omics, Revvity 5 2 3 0 0 0 10
Genome-Nilou Lab 0 1 1 0 8 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 1 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 2 0 3 0 0 0 5
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 1 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 0 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Mendelics 0 0 0 1 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 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 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 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 2
3billion 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
OMIM 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 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
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 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 1
GenomeConnect - GM1 0 0 0 0 0 1 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 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 1

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