ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.683+8A>T

dbSNP: rs1446831422
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603907 SCV000721072 likely benign not specified 2017-07-10 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 RCV002531538 SCV003020133 likely benign Familial melanoma 2024-11-02 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital RCV003315247 SCV004012978 uncertain significance Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 2019-10-09 criteria provided, single submitter research
Myriad Genetics, Inc. RCV004788016 SCV005403836 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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