Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Bioinformatics, |
RCV000059473 | SCV000221899 | pathogenic | Severe myoclonic epilepsy in infancy | 2014-12-20 | criteria provided, single submitter | research | |
Eurofins Ntd Llc |
RCV000332135 | SCV000332932 | likely pathogenic | not provided | 2015-07-15 | criteria provided, single submitter | clinical testing | |
Uni |
RCV000059473 | SCV000090998 | not provided | Severe myoclonic epilepsy in infancy | no assertion provided | not provided |