ClinVar Miner

Variants in gene HGSNAT

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
59 51 224 129 33 443

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 40 6 93 99 11 249
Mucopolysaccharidosis, MPS-III-C 24 33 126 18 22 209
not provided 7 5 9 20 10 49
not specified 0 0 5 2 9 16
Retinitis pigmentosa 73 7 6 3 0 0 15
Sanfilippo syndrome 9 1 4 0 0 14
Retinal dystrophy 3 6 5 0 0 13
Mucopolysaccharidosis 4 0 0 0 0 4
Intellectual disability 0 0 1 2 0 3
Retinitis pigmentosa 2 0 0 0 0 2
Seizures; Intellectual disability 0 0 1 0 0 1
none provided 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 40 6 93 112 12 263
Illumina Clinical Services Laboratory,Illumina 0 1 91 12 17 121
Counsyl 8 18 18 0 0 44
Natera, Inc. 6 0 20 6 7 39
Integrated Genetics/Laboratory Corporation of America 9 1 6 1 3 20
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
Myriad Women's Health, Inc. 0 12 0 0 0 12
Blueprint Genetics 3 3 5 0 0 11
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 2 5 8
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 3 5 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 4 1 0 7
GeneReviews 4 0 0 0 0 4
Undiagnosed Diseases Network,NIH 2 0 2 0 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 de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 2 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
Baylor Genetics 0 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 1 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
New York Genome Center 0 0 2 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 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
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 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
Institute of Human Genetics, University of Leipzig Medical Center 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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