ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.305-20T>C

dbSNP: rs987662524
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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 RCV000581192 SCV000690570 likely benign Hereditary cancer-predisposing syndrome 2017-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000610491 SCV000723452 likely benign not specified 2017-09-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002061873 SCV002472903 likely benign Familial adenomatous polyposis 2 2025-01-23 criteria provided, single submitter clinical testing

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