Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Genetics, |
RCV001264743 | SCV001442977 | likely pathogenic | Sifrim-Hitz-Weiss syndrome | 2020-04-03 | no assertion criteria provided | clinical testing |