ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1269C>T (p.Pro423=)

gnomAD frequency: 0.00513  dbSNP: rs61736890
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV006448589 SCV007321935 benign not specified 2025-09-26 criteria provided, single submitter clinical testing BA1, BS2, BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV004714111 SCV005279666 benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV000872444 SCV001014256 benign Mucopolysaccharidosis, MPS-II 2026-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318886 SCV000851973 benign Inborn genetic diseases 2017-07-09 criteria provided, single submitter clinical testing This alteration is classified as 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. RCV000872444 SCV001462903 benign Mucopolysaccharidosis, MPS-II 2020-09-16 no assertion criteria provided clinical testing

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