ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.409C>T (p.Leu137=) (rs368963039)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163347 SCV000213881 likely benign Hereditary cancer-predisposing syndrome 2014-10-31 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.
Invitae RCV000233728 SCV000285948 likely benign MYH-associated polyposis 2020-11-19 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163347 SCV000690573 likely benign Hereditary cancer-predisposing syndrome 2017-08-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000609907 SCV000697696 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000609907 SCV000729070 likely benign not specified 2017-12-18 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.

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