ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.648A>C (p.Gly216=)

dbSNP: rs2140383924
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001504620 SCV001709505 likely benign Familial melanoma 2021-10-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004789634 SCV005406993 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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