Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rett |
RCV000144141 | SCV000189218 | not provided | not provided | flagged submission | not provided | ||
Rett |
RCV000170051 | SCV000222360 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2014-03-13 | no assertion criteria provided | curation | Bahi-Buisson et al 2008 suggested transcript unstable |