Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485076 | SCV000572731 | uncertain significance | not provided | 2019-02-18 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Observed to segregate independently in a daughter with left ventricular dilation and mother with HCM and sudden death |
Blueprint Genetics | RCV000157093 | SCV000206815 | uncertain significance | Primary dilated cardiomyopathy | 2014-07-16 | no assertion criteria provided | clinical testing |