Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000014565 | SCV000608350 | pathogenic | Hypophosphatemic rickets, autosomal recessive, 2 | 2017-09-19 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000014565 | SCV000034819 | pathogenic | Hypophosphatemic rickets, autosomal recessive, 2 | 2010-02-12 | no assertion criteria provided | literature only |