ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.306A>C (p.Thr102=) (rs201202764)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444779 SCV000527612 likely benign not specified 2016-05-09 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.
Invitae RCV000466339 SCV000559062 likely benign Hereditary melanoma 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575195 SCV000669113 likely benign Hereditary cancer-predisposing syndrome 2015-07-14 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000444779 SCV000695315 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284475 SCV001470290 likely benign not provided 2020-08-02 criteria provided, single submitter clinical testing

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