Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187287 | SCV000240869 | benign | not specified | 2013-04-05 | criteria provided, single submitter | clinical testing | The variant is found in EPILEPSY,CHILD-EPI panel(s). |
Invitae | RCV002054197 | SCV002430335 | likely benign | Neuronal ceroid lipofuscinosis | 2023-07-25 | criteria provided, single submitter | clinical testing |