Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415357 | SCV000492531 | likely pathogenic | Epileptic encephalopathy; Developmental delay | 2016-10-06 | no assertion criteria provided | clinical testing |