Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523618 | SCV000621056 | likely pathogenic | not provided | 2021-03-17 | criteria provided, single submitter | clinical testing | Identified as a secondary finding by exome sequencing in published literature (Carruth et al., 2019) in an individual who did not have ARVC Reported as 85_86insATTC due to the use of alternate nomenclature; 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; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31638835) |