Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037941 | SCV000061606 | likely benign | not specified | 2012-05-09 | criteria provided, single submitter | clinical testing | 2128-10T>C in intron 17 of BRAF: This variant is located in the 3' splice region but does not affect the invariant -1 and -2 positions. Although positions -3 an d -5 to -12 are part of the splicing consensus sequence and variants involving t hese positions sometimes affect splicing, pathogenic splicing variants have not been reported in Noonan spectrum disorders. Therefore, this variant is likely to be benign. |
Invitae | RCV002054682 | SCV002422922 | likely benign | RASopathy | 2023-11-27 | criteria provided, single submitter | clinical testing |