Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001004615 | SCV001163817 | pathogenic | Classic homocystinuria | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001540545 | SCV001758440 | pathogenic | not provided | 2019-05-31 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); Published functional studies demonstrate a damaging effect (Mayfield et al., 2012); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 21435402, 21308989, 20455263, 24211323, 19448746, 12173932, 16245937, 21062078, 10338090, 22267502, 29326875) |