ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.126C>T (p.Ile42=)

gnomAD frequency: 0.00117  dbSNP: rs146963087
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731544 SCV000859376 likely benign not specified 2018-02-08 criteria provided, single submitter clinical testing
Invitae RCV000875709 SCV001018174 benign Mucopolysaccharidosis, MPS-II 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369997 SCV002685892 benign Inborn genetic diseases 2018-09-02 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.
Fulgent Genetics, Fulgent Genetics RCV000875709 SCV002800028 likely benign Mucopolysaccharidosis, MPS-II 2021-10-13 criteria provided, single submitter clinical testing

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