ClinVar Miner

Submissions for variant NC_000017.11:g.(?_58703196)_(58709990_?)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 RCV000476118 SCV000563940 pathogenic Fanconi anemia complementation group O 2016-08-03 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 4-5 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 variant has not been reported in the literature, loss-of-function 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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