ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.216C>A (p.Val72=)

dbSNP: rs1294424179
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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 RCV001428072 SCV001630765 likely benign Familial melanoma 2020-02-21 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004789587 SCV005407180 benign Melanoma, cutaneous malignant, susceptibility to, 3 2024-09-24 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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