Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000734751 | SCV000242502 | likely benign | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29314583) |
Eurofins Ntd Llc |
RCV000734751 | SCV000862919 | uncertain significance | not provided | 2018-08-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001408607 | SCV001610609 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2021-11-27 | criteria provided, single submitter | clinical testing |