Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010950 | SCV001171216 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-07 | criteria provided, single submitter | clinical testing | The c.1341A>T variant (also known as p.S447S), located in coding exon 12 of the MRE11A gene, results from an A to T substitution at nucleotide position 1341. This nucleotide substitution does not change the serine at codon 447. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001496596 | SCV001701296 | likely benign | Ataxia-telangiectasia-like disorder | 2020-11-13 | criteria provided, single submitter | clinical testing |