ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.23G>T (p.Arg8Leu)

gnomAD frequency: 0.00005  dbSNP: rs782621858
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000934628 SCV001080355 benign Mucopolysaccharidosis, MPS-II 2024-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427322 SCV002731508 likely benign Inborn genetic diseases 2022-12-14 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.
CeGaT Center for Human Genetics Tuebingen RCV004597927 SCV005093305 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing IDS: BS2
Natera, Inc. RCV000934628 SCV001466678 likely benign Mucopolysaccharidosis, MPS-II 2020-10-12 no assertion criteria provided clinical testing

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