Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Bioinformatics, |
RCV000180919 | SCV000221896 | pathogenic | Severe myoclonic epilepsy in infancy | 2014-12-20 | criteria provided, single submitter | research | |
Mayo Clinic Laboratories, |
RCV003480074 | SCV004225958 | likely pathogenic | not provided | 2023-05-15 | criteria provided, single submitter | clinical testing | PP2, PP3, PM1, PM2, PM5, PS4_moderate |