Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000505478 | SCV000599670 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2013-11-06 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000505478 | SCV001141519 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2019-05-28 | criteria provided, single submitter | clinical testing |