Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000774981 | SCV000909074 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000774981 | SCV002716205 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-18 | criteria provided, single submitter | clinical testing | The p.L60V variant (also known as c.178T>G), located in coding exon 1 of the MSH6 gene, results from a T to G substitution at nucleotide position 178. The leucine at codon 60 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
All of Us Research Program, |
RCV004001424 | SCV004830426 | likely benign | Lynch syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing |