ClinVar Miner

Variants studied for Sandhoff disease

Included ClinVar conditions (1):
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
55 54 88 53 13 1 234

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HEXB 55 54 84 51 13 1 228
GFM2, HEXB 0 0 4 2 0 0 6

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 41 12 25 50 7 0 135
Counsyl 3 29 27 1 0 0 60
Illumina Clinical Services Laboratory,Illumina 1 1 21 5 8 0 36
Natera, Inc. 4 0 12 3 7 0 26
Integrated Genetics/Laboratory Corporation of America 9 4 0 0 0 0 13
Myriad Women's Health, Inc. 1 10 0 0 0 0 11
Baylor Genetics 6 0 3 0 0 0 9
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 1 1 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 3 0 0 0 0 0 3
OMIM 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Mendelics 0 0 0 1 1 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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 2
PreventionGenetics, PreventionGenetics 1 0 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
Kasturba Medical College, Manipal University 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 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 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 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

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