ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1453-4C>G

dbSNP: rs747751038
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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 RCV000562413 SCV000671844 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-10 criteria provided, single submitter clinical testing The c.1453-4C>G intronic variant results from a C to G substitution 4 nucleotides upstream from coding exon 10 in the RAD50 gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native 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 RCV000562413 SCV004507543 likely benign Hereditary cancer-predisposing syndrome 2022-12-30 criteria provided, single submitter clinical testing

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