Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000572099 | SCV000671803 | uncertain significance | Hereditary cancer-predisposing syndrome | 2016-08-24 | criteria provided, single submitter | clinical testing | The c.1794-3dupT intronic variant, results from a duplication of two nucleotides at nucleotide position 1794 before intron 11 of the RAD50 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV000572099 | SCV001719446 | benign | Hereditary cancer-predisposing syndrome | 2023-05-28 | criteria provided, single submitter | clinical testing |