Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000786872 | SCV000925769 | likely pathogenic | Alagille syndrome due to a NOTCH2 point mutation | 2018-09-24 | no assertion criteria provided | clinical testing |