Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000195527 | SCV000254875 | likely benign | Hereditary cancer-predisposing syndrome | 2023-08-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000195527 | SCV000671857 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-05 | criteria provided, single submitter | clinical testing | The c.123A>T variant (also known as p.G41G), located in coding exon 1 of the RAD50 gene, results from an A to T substitution at nucleotide position 123. This nucleotide substitution does not change the glycine at codon 41. This nucleotide position is poorly 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. |