Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Genomic Medicine, |
RCV001002703 | SCV001156406 | pathogenic | Saldino-Mainzer syndrome | 2019-02-01 | criteria provided, single submitter | clinical testing | |
NIHR Bioresource Rare Diseases, |
RCV000504730 | SCV000599127 | likely pathogenic | Retinitis pigmentosa | 2015-01-01 | no assertion criteria provided | research |