Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV000005199 | SCV003918852 | likely pathogenic | Usher syndrome type 1D | 2023-04-21 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000005199 | SCV000025376 | pathogenic | Usher syndrome type 1D | 2001-01-01 | no assertion criteria provided | literature only |