Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
RCV001027652 | SCV001164598 | likely pathogenic | Polycystic kidney disease 2 | 2020-02-27 | criteria provided, single submitter | clinical testing | We have identified 6 affected cases of polycystic kidney disease in three unrelated families in the south coast of Spain. |