ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.467C>A (p.Pro156Gln)

gnomAD frequency: 0.00832  dbSNP: rs145231211
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081804 SCV000628112 benign Mucopolysaccharidosis, MPS-II 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316480 SCV000849651 benign Inborn genetic diseases 2016-04-15 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic RCV000675880 SCV000801605 benign not provided 2017-09-27 no assertion criteria provided clinical testing
Natera, Inc. RCV001834749 SCV002084487 benign Mucopolysaccharidosis, MPS-III-A 2020-07-21 no assertion criteria provided clinical testing

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