Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV001507756 | SCV001713500 | likely pathogenic | not provided | 2019-05-26 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV003387533 | SCV004099169 | pathogenic | Developmental and epileptic encephalopathy, 4 | 2023-09-25 | criteria provided, single submitter | clinical testing | PVS1, PS2, PM2 |