Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003228894 | SCV003926186 | pathogenic | not provided | 2022-11-16 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 255 amino acids are replaced with 55 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: 18671284) |
OMIM | RCV000014911 | SCV000035167 | pathogenic | Feingold syndrome type 1 | 2008-09-01 | no assertion criteria provided | literature only |