ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.346-9C>A

dbSNP: rs878854563
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001469206 SCV001673280 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2024-07-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001804966 SCV002052150 likely benign Hereditary cancer-predisposing syndrome 2016-02-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998525 SCV005623981 uncertain significance not provided 2024-02-14 criteria provided, single submitter clinical testing The RAD51D c.346-9C>A variant has not been reported in individuals with RAD51D-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on RAD51D mRNA splicing yielded inconclusive findings. Based on the available information, we are unable to determine the clinical significance of this variant.

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