ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.904-14_904-11del

dbSNP: rs1357935702
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772335 SCV000905497 likely benign Hereditary cancer-predisposing syndrome 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003106048 SCV003780589 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2023-10-18 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the RAD51D gene. It does not directly change the encoded amino acid sequence of the RAD51D protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 628048). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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