Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000648293 | SCV000770107 | uncertain significance | Fanconi anemia complementation group O | 2017-10-05 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 1-7 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 7 of the RAD51C gene. The exact location of this variant in the genome is unknown. A similar duplication of exons 1-7 of RAD51C has been reported in the literature in individuals affected with breast and/or ovarian cancer, as well as in an individual affected with breast cancer and basal cell carcinoma, and in two of her siblings affected with breast cancer (PMID: 28802053). In summary, the exact location of the duplicated exons is unknown and 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. |