Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000627293 | SCV000748285 | likely pathogenic | not provided | 2020-12-22 | criteria provided, single submitter | clinical testing | Nonsense 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 in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32870709) |
Baylor Genetics | RCV001332445 | SCV001524773 | pathogenic | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2020-06-03 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ce |
RCV000627293 | SCV001961930 | likely pathogenic | not provided | 2021-07-01 | criteria provided, single submitter | clinical testing |