Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001038397 | SCV001201864 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2021-08-13 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001328666 | SCV001519834 | likely pathogenic | Severe myoclonic epilepsy in infancy | 2019-02-26 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |