Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000720401 | SCV000851278 | pathogenic | History of neurodevelopmental disorder | 2016-10-05 | criteria provided, single submitter | clinical testing | Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation |
Mendelics | RCV000990909 | SCV001141962 | pathogenic | Early infantile epileptic encephalopathy 9 | 2019-05-28 | criteria provided, single submitter | clinical testing |