ClinVar Miner

Submissions for variant NC_000017.10:g.(?_56770005)_(56811583_?)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 RCV004581316 SCV005065410 pathogenic Fanconi anemia complementation group O 2024-01-27 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the RAD51C gene has been identified. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917, 29278735). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. For these reasons, this variant has been classified as Pathogenic.

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