Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480906 | SCV000566306 | pathogenic | not provided | 2023-04-19 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 330 amino acids are replaced with 3 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); This variant is associated with the following publications: (PMID: 33520214, 36232677, 30329210, 21378985) |