ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.381C>T (p.Gly127=) (rs781207390)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167205 SCV000218042 likely benign Hereditary cancer-predisposing syndrome 2014-12-30 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.
True Health Diagnostics RCV000167205 SCV000886681 likely benign Hereditary cancer-predisposing syndrome 2018-11-12 no assertion criteria provided clinical testing

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