Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kariminejad - |
RCV001814076 | SCV001755544 | likely pathogenic | Abnormality of the nervous system | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Department Of Translational Genomics |
RCV000162175 | SCV000196461 | likely pathogenic | Blindness; Neurodegeneration | 2014-12-01 | no assertion criteria provided | research | |
OMIM | RCV000235018 | SCV000292392 | pathogenic | Developmental and epileptic encephalopathy, 38 | 2015-01-13 | no assertion criteria provided | literature only |