Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008773 | SCV001168562 | likely pathogenic | not provided | 2020-12-08 | criteria provided, single submitter | clinical testing | Identified in a patient with Brugada syndrome in published literature (Millat et al., 2009); Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 19026623, 30662450) |