ClinVar Miner

Variants in gene HGSNAT

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 total
29 27 88 13 15 149

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Sanfilippo syndrome 5 0 48 7 2 62
Mucopolysaccharidosis, MPS-III-C 20 20 24 0 2 61
not provided 6 5 7 5 9 30
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 10 1 9 1 4 25
not specified 0 0 7 2 9 17
Retinitis pigmentosa 73 4 0 1 0 0 5
Retinal dystrophy 0 3 0 0 0 3

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 49 7 2 59
Counsyl 8 18 18 0 0 44
Invitae 8 1 9 1 4 23
Integrated Genetics/Laboratory Corporation of America 5 0 9 0 3 17
GeneDx 4 4 2 1 4 15
OMIM 14 0 0 0 0 14
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 1 0 8 12
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 2 5 8
PreventionGenetics 0 0 0 0 3 3
Fulgent Genetics,Fulgent Genetics 2 1 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 1 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 1 0 3
NIHR Bioresource Rare Diseases,University of Cambridge 0 3 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 2
Undiagnosed Diseases Network,NIH 0 0 2 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 1 2
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 1
NeuroCure Clinial Research Center,Charite Universitaetsmedizin Berlin 1 0 0 0 0 1
GENETICS INSTITUTE,National university of Colombia 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 1 0 0 0 0 1

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