Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000997642 | SCV001153264 | likely pathogenic | not provided | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000997642 | SCV002562631 | likely pathogenic | not provided | 2023-07-09 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 31 amino acids are replaced with 12 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 |