Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Reproductive Medicine, |
RCV001257393 | SCV001433921 | likely pathogenic | Anencephaly; Heart, malformation of; Polyhydramnios; Ankle flexion contracture; Aplasia/Hypoplasia of the cerebellum | 2019-10-16 | criteria provided, single submitter | clinical testing |