ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1117C>T (p.Leu373=)

dbSNP: rs1060501334
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010195 SCV001170352 likely benign Hereditary cancer-predisposing syndrome 2019-06-14 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 RCV001461645 SCV001665548 likely benign Familial adenomatous polyposis 2 2022-08-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001010195 SCV004358554 likely benign Hereditary cancer-predisposing syndrome 2017-07-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001461645 SCV005429817 likely benign Familial adenomatous polyposis 2 2024-06-09 criteria provided, single submitter clinical testing

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