Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001255328 | SCV001431714 | likely pathogenic | Intellectual disability | 2020-08-03 | criteria provided, single submitter | clinical testing | The variant c.1332_1354del, p.(Glu446*) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was unknown.The variants does not (fully) explain the NDD in this individual |
Institute of Human Genetics, |
RCV001262402 | SCV001440255 | likely pathogenic | Arrhythmogenic right ventricular dysplasia 10 | 2019-01-01 | criteria provided, single submitter | clinical testing |