ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.798G>A (p.Glu266=)

gnomAD frequency: 0.00001  dbSNP: rs780522588
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457292 SCV000559067 likely benign Familial melanoma 2024-04-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800696 SCV000601014 likely benign not provided 2021-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411544 SCV002675700 likely benign Hereditary cancer-predisposing syndrome 2022-03-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Myriad Genetics, Inc. RCV004791488 SCV005407658 benign Melanoma, cutaneous malignant, susceptibility to, 3 2024-09-26 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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