ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.684-5C>T

gnomAD frequency: 0.00001  dbSNP: rs765361338
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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 RCV000458437 SCV000559064 likely benign Familial melanoma 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025723 SCV001187967 likely benign Hereditary cancer-predisposing syndrome 2019-04-19 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.
GeneDx RCV001597144 SCV001830684 likely benign not provided 2019-02-11 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004787767 SCV005406889 likely benign Melanoma, cutaneous malignant, susceptibility to, 3 2024-09-26 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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