ClinVar Miner

Variants studied for Sandhoff disease

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 not provided total
137 98 161 374 22 1 719

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HEXB 132 98 155 372 21 1 706
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
ENC1, HEXB, LOC123497911, LOC129994057, LOC129994058, LOC129994059, LOC129994060, LOC129994061, LOC129994062 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 118 24 88 370 17 0 617
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 21 19 0 0 0 0 40
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
OMIM 12 0 0 0 0 0 12
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
Neuberg Centre For Genomic Medicine, NCGM 2 1 4 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 1 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
Centogene AG - the Rare Disease Company 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
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
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
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.