ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.445T>G (p.Ser149Ala)

gnomAD frequency: 0.00015  dbSNP: rs146846763
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762676 SCV000893011 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing IDS: BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV001083047 SCV001091905 benign Mucopolysaccharidosis, MPS-II 2024-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000762676 SCV001819949 likely benign not provided 2018-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332544 SCV002638839 likely benign Inborn genetic diseases 2016-10-04 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. RCV001825511 SCV002084491 likely benign Mucopolysaccharidosis, MPS-III-A 2019-10-28 no assertion criteria provided clinical testing

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