Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000711235 | SCV000841567 | likely pathogenic | not provided | 2017-09-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000711235 | SCV002513208 | likely pathogenic | not provided | 2023-08-08 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23739125) |