Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Yale Center for Mendelian Genomics, |
RCV000845110 | SCV000987045 | pathogenic | Alagille syndrome due to a NOTCH2 point mutation | 2014-07-10 | no assertion criteria provided | literature only |