ClinVar Miner

Submissions for variant NC_000017.10:g.(?_56769986)_(56774230_?)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 RCV003123002 SCV003796232 pathogenic Fanconi anemia complementation group O 2023-02-24 criteria provided, single submitter clinical testing A similar copy number variant has been observed in individual(s) with breast and/or ovarian cancer (PMID: 33047316). This variant is a gross deletion of the genomic region encompassing exon(s) 1-3 of the RAD51C gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. 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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