ClinVar Miner

Variants in gene SGSH

See also:
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
52 54 164 125 32 352

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mucopolysaccharidosis, MPS-III-A 49 45 148 113 29 324
not provided 16 12 18 12 8 64
not specified 0 0 1 7 11 19
Sanfilippo syndrome 5 0 2 0 0 7
Inborn genetic diseases 4 0 1 0 0 5
Mucopolysaccharidosis 5 0 0 0 0 5
Global developmental delay; Diarrhea; Nystagmus; Retinal dystrophy; Severe visual impairment; Developmental regression; Gastrointestinal dysmotility 2 0 0 0 0 2
Abnormality of carbohydrate metabolism/homeostasis 0 1 0 0 0 1
Intellectual disability 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 35 8 35 114 16 208
Illumina Clinical Services Laboratory,Illumina 2 1 73 1 14 91
Counsyl 6 29 24 0 1 60
Natera, Inc. 7 1 27 11 10 56
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 9 0 10 2 6 27
GeneDx 10 10 0 0 3 23
Integrated Genetics/Laboratory Corporation of America 12 4 1 1 4 22
Mayo Clinic Laboratories, Mayo Clinic 2 1 3 4 8 18
PreventionGenetics, PreventionGenetics 0 0 0 5 9 14
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 2 9 2 0 0 13
OMIM 12 0 0 0 0 12
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 5 0 0 0 3 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 5 0 0 0 2 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 1 0 0 0 6
Ambry Genetics 4 0 1 0 0 5
GeneReviews 5 0 0 0 0 5
Baylor Genetics 3 0 0 0 0 3
Mendelics 1 1 0 0 1 3
Fulgent Genetics,Fulgent Genetics 3 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 1 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 2 0 0 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 0 0 0 2
Myriad Women's Health, Inc. 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Center for Medical Genetics,GenVams Trust 1 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 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.