ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1240-20C>T

gnomAD frequency: 0.00004  dbSNP: rs184154021
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427617 SCV000516793 likely benign not specified 2017-05-16 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.
Color Diagnostics, LLC DBA Color Health RCV000580392 SCV000685569 likely benign Hereditary cancer-predisposing syndrome 2016-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061640 SCV002423139 likely benign Familial adenomatous polyposis 2 2024-12-18 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000427617 SCV004243559 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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