ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.171T>C (p.His57=)

dbSNP: rs2149174507
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002255944 SCV002532272 likely benign Hereditary cancer-predisposing syndrome 2021-03-25 criteria provided, single submitter curation
Ambry Genetics RCV002255944 SCV002744403 likely benign Hereditary cancer-predisposing syndrome 2021-11-16 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 RCV003094230 SCV003198106 likely benign Familial adenomatous polyposis 2 2022-06-26 criteria provided, single submitter clinical testing

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