ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.346-5C>T

dbSNP: rs750169840
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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 RCV001020365 SCV001181836 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-22 criteria provided, single submitter clinical testing The c.346-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 5 in the RAD51D gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003528261 SCV004245921 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2024-04-15 criteria provided, single submitter clinical testing

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