Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Embryology Laboratory, |
RCV001199830 | SCV001337641 | likely pathogenic | WBP11 spliceosomopathy | 2020-06-01 | criteria provided, single submitter | research | |
OMIM | RCV001312232 | SCV001502667 | pathogenic | Vertebral, cardiac, tracheoesophageal, renal, and limb defects | 2021-03-19 | no assertion criteria provided | literature only |