ClinVar Miner

Submissions for variant NC_000017.10:g.(?_59760647)_(59761511_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000708335 SCV000837445 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2018-05-09 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon 20 of the BRIP1 gene. The 5' boundary is likely confined to intron 19. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with BRIP1-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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