Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Genetics, |
RCV001270359 | SCV001450586 | uncertain significance | Vitelliform macular dystrophy 2 | criteria provided, single submitter | clinical testing | Variant not found in population databases, predicted deleterious by in-silico pathogenicity predictors. (ACMG: PM2 Moderate; PP3 Supporting) | |
Retina International | RCV000086173 | SCV000118317 | not provided | not provided | no assertion provided | not provided |