Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001370121 | SCV001566586 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2021-09-02 | criteria provided, single submitter | clinical testing | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000656248 | SCV004013346 | uncertain significance | not provided | 2023-06-29 | criteria provided, single submitter | clinical testing | PM2 |
Laboratory of Molecular Genetics |
RCV000656248 | SCV000778208 | likely pathogenic | not provided | 2016-07-07 | no assertion criteria provided | clinical testing |