Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586402 | SCV000695314 | uncertain significance | not provided | 2017-02-23 | criteria provided, single submitter | clinical testing | Variant summary: The CDK4 c.219-10C>T variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant along with 5/5 splice prediction tools predicting a benign impact on splicing. This variant was found in 1/121278 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic CDK4 variant (0.00002). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Of note, this variant was identified in a single specimen tested at our laboratory to co-occur with another "Likely Pathogenic" BRCA2 variant c.1648G>T (p.E550*), thus supporting a possible benign outcome. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available. |
| Labcorp Genetics |
RCV001436444 | SCV001639286 | likely benign | Familial melanoma | 2025-01-02 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV004788000 | SCV005404516 | likely benign | Melanoma, cutaneous malignant, susceptibility to, 3 | 2024-09-25 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. |