Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000486948 | SCV000573507 | likely pathogenic | not provided | 2022-07-18 | criteria provided, single submitter | clinical testing | Frameshift variant is predicted to result in protein truncation, as the last 338 amino acids are replaced with 36 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |