ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.564G>A (p.Gln188=)

dbSNP: rs1057521685
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427995 SCV000524018 likely benign not specified 2016-02-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003584599 SCV004264608 likely benign Familial melanoma 2023-03-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004786697 SCV005405425 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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