Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Embryology Laboratory, |
RCV001391059 | SCV001449131 | pathogenic | Congenital NAD deficiency disorder | 2020-11-11 | no assertion criteria provided | research | This variant, c.43del, was found in one homozygous child |
OMIM | RCV002265974 | SCV002549039 | pathogenic | Vertebral, cardiac, renal, and limb defects syndrome 1 | 2022-07-15 | no assertion criteria provided | literature only |