Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008149 | SCV001167909 | likely pathogenic | not provided | 2020-10-22 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 148 amino acids are replaced with 12 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV001008149 | SCV003834750 | likely pathogenic | not provided | 2022-01-28 | criteria provided, single submitter | clinical testing |