ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.78T>A (p.Ala26=)

gnomAD frequency: 0.00001  dbSNP: rs199968813
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163672 SCV000214244 likely benign Hereditary cancer-predisposing syndrome 2014-12-03 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 RCV000471256 SCV000557583 likely benign Familial adenomatous polyposis 2 2024-01-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163672 SCV000685554 likely benign Hereditary cancer-predisposing syndrome 2017-05-16 criteria provided, single submitter clinical testing
GeneDx RCV001697155 SCV000722562 likely benign not provided 2021-05-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000471256 SCV004843495 likely benign Familial adenomatous polyposis 2 2023-10-27 criteria provided, single submitter clinical testing

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