Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000505475 | SCV000599684 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2013-10-28 | criteria provided, single submitter | clinical testing |