ClinVar Miner

Submissions for variant NC_000017.10:g.(?_56769999)_(56774226_?)dup

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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 RCV000554988 SCV000649991 uncertain significance Fanconi anemia complementation group O 2017-08-07 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 1-3 of the RAD51C gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 3 of the RAD51C gene. The exact location of this variant in the genome is unknown. Duplication of exons 1-3 has not been reported in the literature in individuals with RAD51C-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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