Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002464057 | SCV002758859 | likely pathogenic | not provided | 2022-05-31 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation as the last 149 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 25525159, 16411190) |
OMIM | RCV000003492 | SCV000023650 | pathogenic | Duane-radial ray syndrome | 2006-02-01 | no assertion criteria provided | literature only | |
Gene |
RCV000003492 | SCV000203845 | not provided | Duane-radial ray syndrome | no assertion provided | literature only |