Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000236068 | SCV000293491 | likely pathogenic | not provided | 2020-04-06 | 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: 24473263, 22035805, 22286749, 26156380, 22345085, 25250524, 22803682, 27821467, 30316835, 27085813, 30416015, 28381558, 30569495) |