ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.884A>G (p.Lys295Arg)

gnomAD frequency: 0.00072  dbSNP: rs113993953
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000974684 SCV001122523 benign Mucopolysaccharidosis, MPS-II 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372679 SCV002683901 likely benign Inborn genetic diseases 2018-01-05 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. RCV001832218 SCV002084475 likely benign Mucopolysaccharidosis, MPS-III-A 2020-04-11 no assertion criteria provided clinical testing

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