Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001009082 | SCV001168892 | likely pathogenic | not provided | 2020-01-30 | criteria provided, single submitter | clinical testing | Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 248 amino acids are lost and replaced with 141 incorrect amino acids (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 |