ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.668-4G>T (rs1001440122)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703753 SCV000523146 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing
Invitae RCV000874115 SCV001016245 likely benign Breast-ovarian cancer, familial 4 2019-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025532 SCV001187734 uncertain significance Hereditary cancer-predisposing syndrome 2020-06-09 criteria provided, single submitter clinical testing The c.668-4G>T intronic variant results from a G to T substitution 4 nucleotides upstream from coding exon 8 in the RAD51D gene. This nucleotide position is 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.
Color Health, Inc RCV001025532 SCV001352063 likely benign Hereditary cancer-predisposing syndrome 2020-01-22 criteria provided, single submitter clinical testing

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