ClinVar Miner

Submissions for variant NC_000017.11:g.(?_58720740)_(58724106_?)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 RCV000560078 SCV000649996 pathogenic Fanconi anemia complementation group O 2017-08-07 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 6-7 of the RAD51C gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Deletion of exons 6-7 has not been reported in the literature in individuals with RAD51C-related disease. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 23149936). For these reasons, this variant has been classified as Pathogenic.

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