Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV000766135 | SCV000882437 | likely pathogenic | Short stature; Abnormal facial shape; Oligodontia; Hyperostosis | 2019-01-23 | no assertion criteria provided | clinical testing | |
OMIM | RCV001328377 | SCV001519498 | pathogenic | Short stature, oligodontia, dysmorphic facies, and motor delay | 2021-03-17 | no assertion criteria provided | literature only |