Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001222919 | SCV001395042 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-10-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429945 | SCV002731621 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-03 | criteria provided, single submitter | clinical testing | The c.2459-4dupA intronic variant results from a duplication of one nucleotide at position c.2459-4 within intron 14 of the MSH2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |