ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.116-54C>T

gnomAD frequency: 0.00030  dbSNP: rs367908623
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126889 SCV000170420 benign not specified 2014-03-04 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.
Counsyl RCV000409930 SCV000487335 uncertain significance Familial adenomatous polyposis 2 2016-02-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000579849 SCV000685597 likely benign Hereditary cancer-predisposing syndrome 2016-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409930 SCV002371456 likely benign Familial adenomatous polyposis 2 2025-01-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000579849 SCV002532257 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-03 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000409930 SCV004822700 likely benign Familial adenomatous polyposis 2 2024-08-30 criteria provided, single submitter clinical testing

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