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
49 43 121 59 29 263

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SGSH 41 41 119 56 29 249
SGSH, SLC26A11 2 2 2 3 0 8
GNPTAB 6 0 0 0 0 6

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 23 5 27 58 16 129
Illumina Clinical Services Laboratory,Illumina 2 1 72 1 14 90
Counsyl 6 31 25 0 1 63
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 3 9 2 0 0 14
OMIM 13 0 0 0 0 13
Integrated Genetics/Laboratory Corporation of America 8 5 0 0 0 13
DNA and Cytogenetics Diagnostics Unit,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 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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 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 Lab (ASPIRE), 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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