Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000004617 | SCV000594359 | likely pathogenic | Desmosterolosis | 2016-03-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000004617 | SCV002792873 | likely pathogenic | Desmosterolosis | 2022-03-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000004617 | SCV000024791 | pathogenic | Desmosterolosis | 2001-10-01 | no assertion criteria provided | literature only |