ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2207+3A>G

gnomAD frequency: 0.00001  dbSNP: rs781305309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556461 SCV000628194 likely benign Hereditary cancer-predisposing syndrome 2023-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000556461 SCV000666988 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-02 criteria provided, single submitter clinical testing The c.2207+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 13 in the RAD50 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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