Total submissions: 1
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. |