ClinVar Miner

Variants in gene SGSH

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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
134 152 396 494 46 5 1044

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Mucopolysaccharidosis, MPS-III-A 131 143 367 463 39 1 998
not provided 30 19 38 32 27 0 137
Inborn genetic diseases 9 0 46 7 0 0 62
not specified 0 0 18 9 12 0 38
SGSH-related disorder 4 1 1 17 4 0 27
Sanfilippo syndrome 4 0 2 0 0 0 6
Mucopolysaccharidosis 0 0 0 0 0 4 4
Global developmental delay; Diarrhea; Nystagmus; Retinal dystrophy; Severely reduced visual acuity; Developmental regression; Gastrointestinal dysmotility 2 0 0 0 0 0 2
See cases 0 2 0 0 0 0 2
Abnormal circulating carbohydrate concentration 0 1 0 0 0 0 1
Abnormality of metabolism/homeostasis 1 0 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1
Neurodegeneration 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 116 33 250 457 24 0 880
Genome-Nilou Lab 16 17 91 17 19 0 160
Natera, Inc. 15 3 47 22 13 0 100
Baylor Genetics 35 54 1 0 0 0 90
Illumina Laboratory Services, Illumina 3 1 71 1 14 0 90
GeneDx 22 14 17 12 20 0 85
Ambry Genetics 9 0 46 7 0 0 62
Counsyl 6 29 23 0 1 0 59
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 9 18 3 5 0 56
Fulgent Genetics, Fulgent Genetics 14 32 9 1 0 0 56
PreventionGenetics, part of Exact Sciences 4 1 1 21 13 0 40
Breakthrough Genomics, Breakthrough Genomics 0 0 3 15 22 0 40
Eurofins Ntd Llc (ga) 8 0 10 2 6 0 26
Mayo Clinic Laboratories, Mayo Clinic 4 1 5 4 8 0 22
CeGaT Center for Human Genetics Tuebingen 6 1 3 6 1 0 17
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 1 9 2 0 0 0 12
OMIM 11 0 0 0 0 0 11
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 6 1 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 7 0 0 1 3 0 11
Myriad Genetics, Inc. 1 8 1 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 2 4 4 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 7 0 0 0 8
Revvity Omics, Revvity 2 1 4 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 3 1 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 0 1 0 2 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 1 0 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 2 0 0 2 0 6
Clinical Genetics, Academic Medical Center 0 0 0 1 4 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 2 0 1 2 0 0 5
3billion 2 0 3 0 0 0 5
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 3 1 1 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 3 0 0 0 4
Mendelics 1 1 0 0 1 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
Genomics England Pilot Project, Genomics England 3 0 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 2 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Center for Medical Genetics, GenVams Trust 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 1 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1

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