Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rett |
RCV000144128 | SCV000189205 | not provided | not provided | flagged submission | not provided | ||
Rett |
RCV000170021 | SCV000222328 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2014-03-13 | no assertion criteria provided | curation | Leads to exon 16 skipping, r.2277_2376del |