ClinVar Miner

Submissions for variant NC_000002.11:g.(?_215593390)_(215634046_?)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 RCV000803912 SCV000943800 uncertain significance Familial cancer of breast 2015-05-27 criteria provided, single submitter clinical testing This sequence change is a gross duplication of the genomic region encompassing exons 5-11 of the BARD1 gene. This duplication extends to the edge of the assayed region, and the 3' boundary of this event is not known. This variant has not been published in the literature and is not present in copy number variation databases. The exact position of the duplicated exons cannot be determined from this data, and the effect of this variant is unknown. Therefore, it has been classified as a Variant of Uncertain Significance.

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