ClinVar Miner

Submissions for variant NM_001128425.2(MUTYH):c.174T>C (p.Ile58=)

gnomAD frequency: 0.00001  dbSNP: rs373296536
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773662 SCV000907360 likely benign Hereditary cancer-predisposing syndrome 2018-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000773662 SCV001173478 likely benign Hereditary cancer-predisposing syndrome 2019-11-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001404027 SCV001605916 likely benign Familial adenomatous polyposis 2 2023-04-11 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000773662 SCV002532265 likely benign Hereditary cancer-predisposing syndrome 2022-02-22 criteria provided, single submitter curation

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