ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.840C>T (p.Arg280=) (rs587780750)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123157 SCV000166461 likely benign MYH-associated polyposis 2020-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000216365 SCV000275113 likely benign Hereditary cancer-predisposing syndrome 2015-04-13 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.
Counsyl RCV000123157 SCV000487320 likely benign MYH-associated polyposis 2015-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000422264 SCV000519091 likely benign not specified 2015-12-17 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.
Color Health, Inc RCV000216365 SCV000685678 likely benign Hereditary cancer-predisposing syndrome 2016-09-30 criteria provided, single submitter clinical testing

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