Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics Laboratory, |
RCV004696646 | SCV005198958 | likely pathogenic | not provided | 2024-01-10 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000034310 | SCV000058261 | pathogenic | Schnyder crystalline corneal dystrophy | 2013-02-01 | no assertion criteria provided | literature only |