ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.423G>C (p.Leu141=)

gnomAD frequency: 0.00003  dbSNP: rs760242081
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707813 SCV000725802 likely benign not provided 2021-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001494961 SCV001699628 likely benign Familial melanoma 2024-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331067 SCV002629761 likely benign Hereditary cancer-predisposing syndrome 2020-11-23 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. RCV004788024 SCV005404244 benign Melanoma, cutaneous malignant, susceptibility to, 3 2024-09-25 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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