Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000995763 | SCV001150096 | pathogenic | Chondrodysplasia punctata 2 X-linked dominant | 2020-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001576786 | SCV001804041 | likely pathogenic | not provided | 2020-09-16 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24036494, 17378690, 22394443, 10391218, 22121851, 11038443) |