ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.403-6_403-5delinsAT

dbSNP: rs1555015255
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Total submissions: 2
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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.

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