ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.704+4G>A

gnomAD frequency: 0.00001  dbSNP: rs761840203
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582113 SCV000690608 likely benign Hereditary cancer-predisposing syndrome 2017-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000640352 SCV000761941 likely benign Familial adenomatous polyposis 2 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582113 SCV001189382 likely benign Hereditary cancer-predisposing syndrome 2020-02-25 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.

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