ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1311A>C (p.Pro437=)

gnomAD frequency: 0.00001  dbSNP: rs768239149
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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 RCV000167218 SCV000218055 likely benign Hereditary cancer-predisposing syndrome 2014-12-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000231679 SCV000285927 likely benign Familial adenomatous polyposis 2 2024-01-31 criteria provided, single submitter clinical testing
Counsyl RCV000231679 SCV000487340 likely benign Familial adenomatous polyposis 2 2016-03-17 criteria provided, single submitter clinical testing
GeneDx RCV001706090 SCV000526252 likely benign not provided 2021-01-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000167218 SCV000903448 likely benign Hereditary cancer-predisposing syndrome 2017-11-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000440796 SCV001361130 likely benign not specified 2019-07-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000167218 SCV002532231 likely benign Hereditary cancer-predisposing syndrome 2021-11-26 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000231679 SCV004826586 likely benign Familial adenomatous polyposis 2 2023-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535136 SCV004712984 likely benign MUTYH-related disorder 2021-11-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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