Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Embryology Laboratory, |
RCV001199834 | SCV001337645 | likely pathogenic | WBP11 spliceosomopathy | 2020-06-01 | criteria provided, single submitter | research | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV001312231 | SCV003806868 | likely pathogenic | Vertebral, cardiac, tracheoesophageal, renal, and limb defects | 2022-07-15 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 strong, PS4 supporting, PM2 moderated, PP1 supporting |
OMIM | RCV001312231 | SCV001502666 | pathogenic | Vertebral, cardiac, tracheoesophageal, renal, and limb defects | 2021-03-19 | no assertion criteria provided | literature only |