Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003117551 | SCV003798783 | likely pathogenic | not provided | 2023-01-31 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); 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: 10417279, 31178897) |
Biochemistry Laboratory of CDMU, |
RCV000768444 | SCV000899204 | likely pathogenic | Pelizaeus-Merzbacher disease | no assertion criteria provided | case-control |