ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.632+8A>G

gnomAD frequency: 0.00001  dbSNP: rs1269709231
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001429021 SCV001631731 likely benign Familial melanoma 2023-08-11 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004793488 SCV005407681 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.
PreventionGenetics, part of Exact Sciences RCV004728718 SCV005340330 likely benign CDK4-related disorder 2024-06-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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