Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000115032 | SCV001817440 | likely pathogenic | not provided | 2017-12-14 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014).; In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect; This variant is associated with the following publications: (PMID: 31087664, 31004928, 28717674, 21714819, 23216579, 24798517) |
OMIM | RCV000115032 | SCV000148941 | uncertain significance | not provided | 2011-07-01 | no assertion criteria provided | literature only |