Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV003987473 | SCV004804734 | uncertain significance | NEK9-related lethal skeletal dysplasia | 2024-03-17 | criteria provided, single submitter | research | |
OMIM | RCV000234928 | SCV000292251 | pathogenic | Arthrogryposis, Perthes disease, and upward gaze palsy | 2021-03-01 | no assertion criteria provided | literature only |