Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor- |
RCV000087319 | SCV000266533 | pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | criteria provided, single submitter | research | ||
OMIM | RCV000087319 | SCV000120199 | pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 2014-01-02 | no assertion criteria provided | literature only |