Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000389266 | SCV000330613 | uncertain significance | not provided | 2016-06-28 | criteria provided, single submitter | clinical testing | The c.1860+3A>G variant in the BRAF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice donor site in intron 15, which may result in abnormal gene splicing. The c.1860+3A>G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1860+3A>G as a variant of uncertain significance. |