Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000481207 | SCV000570391 | uncertain significance | not provided | 2016-05-20 | criteria provided, single submitter | clinical testing | This variant is denoted BARD1 c.1396-22_1396-19delCTTT or IVS5-22_IVS5-19delCTTT and consists of a deletion of five nucleotides at the -22 to -19 position in intron 5 of the BARD1 gene. One in silico model predicts this variant to destroy the nearby natural splice acceptor site and to possibly cause abnormal gene splicing; however two others do not predict the natural splice acceptor site, and in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BARD1 c.1396-22_1396-19delCTTT was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The nucleotides that are deleted are not conserved. Based on currently available information, it is unclear whether BARD1 c.1396-22_1396-19delCTTT is pathogenic or benign. We consider it to be a variant of uncertain significance. |
| Color Diagnostics, |
RCV000773203 | SCV000906787 | likely benign | Hereditary cancer-predisposing syndrome | 2016-09-23 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV002056793 | SCV002487519 | likely benign | Familial cancer of breast | 2023-10-25 | criteria provided, single submitter | clinical testing |