ClinVar Miner

Submissions for variant NM_058216.2(RAD51C):c.572-?_705+?del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228210 SCV000291224 pathogenic Fanconi anemia complementation group O 2016-09-03 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 4 of the RAD51C gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular deletion 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 Pathogenic.

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