Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522921 | SCV000617247 | pathogenic | not provided | 2020-10-06 | 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: 30170228, 25356899) |
Center For Human Genetics And Laboratory Diagnostics, |
RCV000853603 | SCV000996571 | pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1 | 2019-03-25 | criteria provided, single submitter | clinical testing |