Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000656257 | SCV002586745 | pathogenic | not provided | 2022-10-21 | 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; Has not been previously published as pathogenic or benign to our knowledge |
Laboratory of Molecular Genetics |
RCV000656257 | SCV000778219 | likely pathogenic | not provided | 2016-10-05 | no assertion criteria provided | clinical testing |