Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192729 | SCV000247020 | pathogenic | CHARGE association | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Hudson |
RCV000192729 | SCV001870315 | pathogenic | CHARGE association | 2019-07-18 | criteria provided, single submitter | research | ACMG codes:PVS1, PS2, PM2, PP5 |