Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000214142 | SCV000273054 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-10-29 | criteria provided, single submitter | clinical testing | The c.214-5C>G intronic variant results from a C to G substitution 5 nucleotides upstream from coding exon 3 in the RAD50 gene. This nucleotide position is well conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by ESEfinder to weaken the efficacy of the native acceptor splice site, but is not predicted to have a deleterious effect on this acceptor splice site by BDGP; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV000214142 | SCV001131810 | likely benign | Hereditary cancer-predisposing syndrome | 2023-10-13 | criteria provided, single submitter | clinical testing |