ClinVar Miner

Variants studied for Mucopolysaccharidosis, MPS-III-A

Coded as:
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
60 48 151 169 29 388

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SGSH 50 45 148 161 29 368
SGSH, SLC26A11 3 2 3 8 0 13
GNPTAB 6 0 0 0 0 6
CARD14, SGSH 1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 38 8 35 165 21 267
Illumina Clinical Services Laboratory,Illumina 2 1 72 1 14 90
Counsyl 6 31 25 0 1 63
Natera, Inc. 9 1 28 11 10 59
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 5 0 0 0 14
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 3 9 2 0 0 14
OMIM 13 0 0 0 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 6 0 0 0 3 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 6 0 0 0 2 8
GeneReviews 6 0 0 0 0 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 5 1 0 0 0 6
Baylor Genetics 4 0 0 0 0 4
Genomics England Pilot Project,Genomics England 3 1 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 3 0 0 0 0 3
Myriad Women's Health, Inc. 3 0 0 0 0 3
Undiagnosed Diseases Network,NIH 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 1
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 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Center for Medical Genetics,GenVams Trust 1 0 0 0 0 1
Diagnostics Services, CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 1

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