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
44 35 169 59 33 308

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mucopolysaccharidosis, MPS-III-C 20 20 109 12 19 173
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 24 3 52 30 11 120
not provided 7 5 6 20 10 46
not specified 0 0 5 3 9 16
Retinal dystrophy 3 6 5 0 0 13
Retinitis pigmentosa 73 7 5 1 0 0 13
Sanfilippo syndrome 8 0 4 0 0 12
Mucopolysaccharidosis 4 0 0 0 0 4
Retinitis pigmentosa 2 0 0 0 0 2
Visual impairment; Photophobia; Peripheral visual field loss; Metamorphopsia 0 1 1 0 0 2
Rod-cone dystrophy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 24 3 52 45 12 136
Illumina Clinical Services Laboratory,Illumina 0 1 91 12 17 121
Counsyl 8 18 18 0 0 44
Integrated Genetics/Laboratory Corporation of America 8 0 6 1 3 18
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
Blueprint Genetics 3 3 5 0 0 11
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 2 5 8
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 3 5 0 0 0 8
GeneReviews 4 0 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 1 1 0 4
PreventionGenetics,PreventionGenetics 0 0 0 0 3 3
Mendelics 0 0 1 1 1 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 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
Sharon lab,Hadassah-Hebrew University Medical Center 2 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 1 2
Baylor Genetics 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, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Charité Universitätsmedizin Berlin, 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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