ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.819+7del

dbSNP: rs1217545832
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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 RCV000639008 SCV000760566 likely benign Familial melanoma 2022-12-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478368 SCV004221630 uncertain significance not provided 2023-03-30 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000004 (1/250068 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect CDK4 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
Myriad Genetics, Inc. RCV004791657 SCV005407626 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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