ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.305-4C>A

dbSNP: rs767717597
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219648 SCV000278706 likely benign Hereditary cancer-predisposing syndrome 2020-02-13 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.
GeneDx RCV000432701 SCV000526257 likely benign not specified 2016-03-22 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 RCV000219648 SCV000903980 likely benign Hereditary cancer-predisposing syndrome 2016-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000862849 SCV001003411 likely benign Familial adenomatous polyposis 2 2025-01-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477776 SCV004222085 likely benign not provided 2023-08-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000862849 SCV004823404 likely benign Familial adenomatous polyposis 2 2023-12-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000432701 SCV005381200 uncertain significance not specified 2024-08-08 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005365168 SCV005919626 likely benign Gastric cancer 2023-06-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000432701 SCV000691951 uncertain significance not specified no assertion criteria provided clinical testing

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