Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV001029862 | SCV001192650 | uncertain significance | Alagille syndrome due to a NOTCH2 point mutation | 2019-10-24 | no assertion criteria provided | clinical testing |