ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.481C>T (p.Leu161=)

gnomAD frequency: 0.00001  dbSNP: rs796860515
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572505 SCV000669107 likely benign Hereditary cancer-predisposing syndrome 2016-09-19 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 RCV000780104 SCV000917146 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Invitae RCV000876451 SCV001019025 likely benign Familial melanoma 2023-12-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000572505 SCV002534253 likely benign Hereditary cancer-predisposing syndrome 2021-06-13 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003392412 SCV004133592 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing CDK4: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003392412 SCV004221624 likely benign not provided 2023-04-03 criteria provided, single submitter clinical testing

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