ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.905-2del (rs876658652)

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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 RCV000221587 SCV000274184 likely pathogenic Hereditary cancer-predisposing syndrome 2015-02-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Invitae RCV000229896 SCV000291253 likely pathogenic Fanconi anemia, complementation group O 2016-01-01 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 6. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). For these reasons, this variant has been classified as Likely Pathogenic.

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