ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.753C>T (p.Pro251=)

gnomAD frequency: 0.00006  dbSNP: rs782051908
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317958 SCV000849481 likely benign Inborn genetic diseases 2017-04-14 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Invitae RCV000871914 SCV001013648 benign Mucopolysaccharidosis, MPS-II 2024-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000871914 SCV002796272 likely benign Mucopolysaccharidosis, MPS-II 2022-01-31 criteria provided, single submitter clinical testing

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