ClinVar Miner

Submissions for variant NC_000017.10:g.(?_56780537)_(56787371_?)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 RCV004581321 SCV005065415 pathogenic Fanconi anemia complementation group O 2023-12-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4-5 of the RAD51C gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917, 29278735). 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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