ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.423G>A (p.Glu141=)

dbSNP: rs764546111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221768 SCV000277954 likely benign Hereditary cancer-predisposing syndrome 2015-08-24 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.
Color Diagnostics, LLC DBA Color Health RCV000221768 SCV000904863 likely benign Hereditary cancer-predisposing syndrome 2018-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001499053 SCV001703810 likely benign Familial adenomatous polyposis 2 2023-07-13 criteria provided, single submitter clinical testing

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