ClinVar Miner

Submissions for variant NC_000017.10:g.(?_59885822)_(59938906_?)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 RCV000707744 SCV000836854 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2018-02-19 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 2-7 of the BRIP1 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 7 of the BRIP1 gene. The exact location of this variant in the genome is unknown. This duplication has not been reported in the literature in individuals with BRIP1-related disease. Experimental studies are not available for this copy number variant, and the functional significance of the duplicated exons is currently unknown. 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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