ClinVar Miner

Variants studied for Mucopolysaccharidosis, MPS-III-D

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
55 16 220 394 30 697

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
GNS 54 16 219 394 30 695
C12orf56, CAND1, DYRK2, GNS, GRIP1, HELB, HMGA2, IRAK3, KICS2, LEMD3, LLPH, MSRB3, RASSF3, RXYLT1, SRGAP1, TBC1D30, TBK1, TMBIM4, WIF1, XPOT 1 0 0 0 0 1
MOK 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 48 13 162 385 17 625
Illumina Laboratory Services, Illumina 0 0 58 3 18 79
Genome-Nilou Lab 0 0 5 1 1 7
Fulgent Genetics, Fulgent Genetics 0 0 4 2 0 6
OMIM 5 0 0 0 0 5
3billion 0 0 0 4 0 4
Pars Genome Lab 0 0 0 0 3 3
Baylor Genetics 0 0 2 0 0 2
Revvity Omics, Revvity 1 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 1

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