ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1449C>T (p.Pro483=)

dbSNP: rs761637332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001457305 SCV001661106 likely benign Mucopolysaccharidosis type 1 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002396071 SCV002702537 likely benign Inborn genetic diseases 2019-10-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Natera, Inc. RCV001457305 SCV002075362 likely benign Mucopolysaccharidosis type 1 2021-07-22 no assertion criteria provided clinical testing

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