ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.657A>C (p.Thr219=) (rs778014929)

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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 RCV000163084 SCV000213587 likely benign Hereditary cancer-predisposing syndrome 2014-10-13 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 RCV000470831 SCV000557580 likely benign MYH-associated polyposis 2020-12-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163084 SCV000690597 likely benign Hereditary cancer-predisposing syndrome 2016-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001537800 SCV000717588 likely benign not provided 2019-04-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000615814 SCV001361127 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing

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