Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147367 | SCV000194744 | uncertain significance | Microcephaly, seizures, and developmental delay | 2014-03-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003525864 | SCV004328804 | likely benign | Developmental and epileptic encephalopathy, 12 | 2023-10-22 | criteria provided, single submitter | clinical testing |