Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001417898 | SCV001620107 | likely benign | Ataxia-telangiectasia-like disorder | 2022-03-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002461307 | SCV002755006 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-12-15 | criteria provided, single submitter | clinical testing | The c.403-6_403-5delGCinsAT intronic variant, located in intron 4 of the MRE11A gene, results from a deletion of two nucleotides and the insertion of two nucleotides at 6 and 5 nucleotides upstream from coding exon 5. These nucleotide positions are poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |