ClinVar Miner

Submissions for variant NC_000017.10:g.(?_56780537)_(56780710_?)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 RCV004581317 SCV005065411 pathogenic Fanconi anemia complementation group O 2024-01-22 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4 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). A similar copy number variant has been observed in individual(s) with ovarian cancer (PMID: 33219106). For these reasons, this variant has been classified as Pathogenic.

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