ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.1218C>T (p.Ser406=) (rs759460243)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506292 SCV000601630 likely benign not specified 2017-01-08 criteria provided, single submitter clinical testing
Invitae RCV000535119 SCV000639258 likely benign MYH-associated polyposis 2020-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575994 SCV000662596 likely benign Hereditary cancer-predisposing syndrome 2015-05-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 Health, Inc RCV000575994 SCV000690507 likely benign Hereditary cancer-predisposing syndrome 2017-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000506292 SCV000723071 likely benign not specified 2017-09-19 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000506292 SCV001426953 likely benign not specified 2020-07-30 criteria provided, single submitter clinical testing

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