Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV001293858 | SCV001482522 | likely pathogenic | Vertebral, cardiac, renal, and limb defects syndrome 3 | 2020-12-15 | criteria provided, single submitter | research | ACMG codes:PVS1, PM2 |
Embryology Laboratory, |
RCV001293858 | SCV004050823 | pathogenic | Vertebral, cardiac, renal, and limb defects syndrome 3 | 2023-05-10 | criteria provided, single submitter | research | This variant was found in compound heterozygosity with the pathogenic variant c.1717G>A. |