ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.330C>T (p.Asp110=) (rs730881836)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212699 SCV000211419 benign not specified 2014-09-29 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.
Ambry Genetics RCV000160760 SCV000213598 likely benign Hereditary cancer-predisposing syndrome 2014-09-12 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 RCV000204684 SCV000261265 likely benign MYH-associated polyposis 2020-12-07 criteria provided, single submitter clinical testing
Counsyl RCV000204684 SCV000487317 likely benign MYH-associated polyposis 2015-12-13 criteria provided, single submitter clinical testing
Color Health, Inc RCV000160760 SCV000685618 likely benign Hereditary cancer-predisposing syndrome 2016-07-20 criteria provided, single submitter clinical testing

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