ClinVar Miner

Submissions for variant NC_000017.10:g.(?_56809835)_(56809915_?)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 RCV004581315 SCV005065409 pathogenic Fanconi anemia complementation group O 2015-08-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in RAD51C are known to be pathogenic and gross deletions that encompass exons 5 through 9 have been previously reported in two breast and/or ovarian cancer families (PMID: 24359560). This sequence change is a gross deletion of the genomic region encompassing exon 8 of the RAD51C gene.

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