Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002354131 | SCV002655619 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-19 | criteria provided, single submitter | clinical testing | The c.63C>T variant (also known as p.Y21Y), located in coding exon 1 of the CDK4 gene, results from a C to T substitution at nucleotide position 63. This nucleotide substitution does not change the tyrosine at codon 21. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Myriad Genetics, |
RCV004785617 | SCV005407042 | benign | Melanoma, cutaneous malignant, susceptibility to, 3 | 2024-09-24 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |