Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
The Danek Gertner Institute of Human Genetics, |
RCV000677141 | SCV000792981 | likely pathogenic | Diaphanospondylodysostosis | 2018-04-15 | no assertion criteria provided | clinical testing | |
OMIM | RCV000677141 | SCV000999201 | pathogenic | Diaphanospondylodysostosis | 2019-11-26 | no assertion criteria provided | literature only |