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 not provided total
145 147 386 499 45 1 1072

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 not provided total
SGSH 131 143 367 463 39 1 998
IDS, LOC106050102 0 0 5 18 6 0 29
LOC130061900, SGSH 5 3 7 9 0 0 20
IDS 1 0 5 8 0 0 14
GNPTAB 6 0 0 0 0 0 6
CARD14, EIF4A3, RNF213, SGSH, SLC26A11 0 0 1 0 0 0 1
CARD14, SGSH 1 1 0 0 0 0 1
IDS, LOC130068781 0 0 0 1 0 0 1
RNF213, SGSH, SLC26A11 0 0 1 0 0 0 1
SGSH, SLC26A11 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 123 33 255 464 24 0 899
Genome-Nilou Lab 19 18 93 17 19 0 166
Natera, Inc. 19 3 58 49 19 0 148
Baylor Genetics 37 55 1 0 0 0 93
Illumina Laboratory Services, Illumina 3 1 70 1 14 0 89
Counsyl 6 31 24 0 1 0 62
Fulgent Genetics, Fulgent Genetics 17 32 9 1 0 0 59
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 9 0 0 0 0 28
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 3 9 2 0 0 0 14
OMIM 13 0 0 0 0 0 13
Myriad Genetics, Inc. 3 8 1 0 0 0 12
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 6 1 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 3 4 4 0 0 0 11
Revvity Omics, Revvity 4 1 5 0 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 6 0 0 0 3 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 6 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 6 0 0 0 2 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 3 1 0 0 0 7
GeneReviews 6 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 1 0 0 0 0 6
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
Genetics and Molecular Pathology, SA Pathology 2 2 0 0 0 0 4
Genomics England Pilot Project, Genomics England 3 1 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 3 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 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
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Center for Medical Genetics, GenVams Trust 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 1

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