ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1239+16A>G

gnomAD frequency: 0.00001  dbSNP: rs1057521503
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424434 SCV000523219 likely benign not specified 2016-01-07 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 RCV000775891 SCV000910371 likely benign Hereditary cancer-predisposing syndrome 2018-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062561 SCV002417215 likely benign Familial adenomatous polyposis 2 2024-01-25 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000424434 SCV005090531 likely benign not specified 2024-07-31 criteria provided, single submitter clinical testing

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