Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000802917 | SCV000942766 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-08-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001021479 | SCV001183103 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-07-30 | criteria provided, single submitter | clinical testing | The p.Q1314E variant (also known as c.3940C>G), located in coding exon 9 of the MSH6 gene, results from a C to G substitution at nucleotide position 3940. The glutamine at codon 1314 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002271587 | SCV002555661 | uncertain significance | not specified | 2022-06-06 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004001655 | SCV004824192 | uncertain significance | Lynch syndrome | 2023-11-30 | criteria provided, single submitter | clinical testing |