ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.660-5T>G

dbSNP: rs587781873
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130199 SCV000185036 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-01 criteria provided, single submitter clinical testing The c.660-5T>G intronic variant results from a T to G substitution 5 nucleotides upstream from coding exon 7 in the MRE11A gene. This nucleotide position is not well conserved in available vertebrate species. This alteration is predicted to abolish a weakly-predicted native splice acceptor site by both the BDGP and ESEfinder in silico models; however experimental evidence is not currently available. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000859008 SCV000253449 likely benign Ataxia-telangiectasia-like disorder 2020-12-03 criteria provided, single submitter clinical testing

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