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
131 119 375 479 45 1017

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SGSH 118 115 357 443 39 944
IDS, LOC106050102 0 0 5 18 6 29
LOC130061900, SGSH 4 3 6 9 0 19
IDS 1 0 5 8 0 14
GNPTAB 6 0 0 0 0 6
CARD14, EIF4A3, RNF213, SGSH, SLC26A11 0 0 1 0 0 1
CARD14, SGSH 1 1 0 0 0 1
IDS, LOC130068781 0 0 0 1 0 1
RNF213, SGSH, SLC26A11 0 0 1 0 0 1
SGSH, SLC26A11 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 110 33 250 444 24 861
Genome-Nilou Lab 19 18 93 17 19 166
Natera, Inc. 19 3 58 49 19 148
Illumina Laboratory Services, Illumina 3 1 72 1 14 91
Baylor Genetics 34 43 1 0 0 78
Counsyl 6 31 24 0 1 62
Fulgent Genetics, Fulgent Genetics 9 8 9 1 0 27
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 7 0 0 0 26
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 3 9 2 0 0 14
OMIM 13 0 0 0 0 13
Myriad Genetics, Inc. 3 8 1 0 0 12
Revvity Omics, Revvity 4 1 5 0 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 5 1 0 0 9
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
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 3 1 1 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 3 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 2 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 1 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 1
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
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 (NGS), 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
New York Genome Center 0 0 1 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
DASA 1 0 0 0 0 1

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