Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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, |
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. |