Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000559786 | SCV000624897 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-11-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002456043 | SCV002613830 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-03 | criteria provided, single submitter | clinical testing | The c.3647-4A>C intronic variant results from an A to C substitution 4 nucleotides upstream from coding exon 8 in the MSH6 gene. This nucleotide position is not 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. |
All of Us Research Program, |
RCV004003696 | SCV004817399 | likely benign | Lynch syndrome | 2023-03-09 | criteria provided, single submitter | clinical testing |