Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001020953 | SCV001182502 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-10-27 | criteria provided, single submitter | clinical testing | The p.E1237D variant (also known as c.3711G>C), located in coding exon 8 of the MSH6 gene, results from a G to C substitution at nucleotide position 3711. The glutamic acid at codon 1237 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly 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. |
Invitae | RCV001373676 | SCV001570403 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-11 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995614 | SCV004826743 | uncertain significance | Lynch syndrome | 2023-04-27 | criteria provided, single submitter | clinical testing |