ClinVar Miner

Submissions for variant NM_001128425.2(MUTYH):c.22C>T (p.Leu8=)

dbSNP: rs753502884
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476955 SCV000557581 likely benign Familial adenomatous polyposis 2 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573715 SCV000666465 likely benign Hereditary cancer-predisposing syndrome 2016-01-19 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.
Color Diagnostics, LLC DBA Color Health RCV000573715 SCV000690545 likely benign Hereditary cancer-predisposing syndrome 2016-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000610552 SCV000717541 likely benign not specified 2017-03-29 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.
Sema4, Sema4 RCV000573715 SCV002532269 likely benign Hereditary cancer-predisposing syndrome 2021-06-23 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004535448 SCV004713287 likely benign MUTYH-related disorder 2021-10-18 criteria provided, single submitter 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).
All of Us Research Program, National Institutes of Health RCV000476955 SCV004835826 likely benign Familial adenomatous polyposis 2 2023-11-30 criteria provided, single submitter clinical testing

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