ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.234T>C (p.Phe78=)

gnomAD frequency: 0.00009  dbSNP: rs782290556
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000879174 SCV001022188 benign Mucopolysaccharidosis, MPS-II 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432867 SCV004166988 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing IDS: BP4, BS2
Ambry Genetics RCV004027923 SCV004885438 likely benign Inborn genetic diseases 2024-03-04 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. RCV001825780 SCV002084498 likely benign Mucopolysaccharidosis, MPS-III-A 2021-02-21 no assertion criteria provided clinical testing

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