Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480506 | SCV000566186 | likely pathogenic | not provided | 2020-12-18 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 102 amino acids are replaced with 2 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 |