Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000149818 | SCV000196645 | pathogenic | Catel-Manzke syndrome | 2014-12-04 | no assertion criteria provided | literature only | |
Laboratory of Diagnostic Genome Analysis, |
RCV001573977 | SCV001800619 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001573977 | SCV001970804 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |