Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Embryology Laboratory, |
RCV001391063 | SCV001449135 | likely pathogenic | Congenital NAD deficiency disorder | 2020-11-11 | no assertion criteria provided | research | This variant, c.616G>A, was found in one homozygous child |
OMIM | RCV003883467 | SCV004697940 | pathogenic | Vertebral, cardiac, renal, and limb defects syndrome 2 | 2024-03-06 | no assertion criteria provided | literature only |