Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001329010 | SCV001520296 | likely pathogenic | CHARGE association | criteria provided, single submitter | clinical testing | ||
Laboratory of Molecular Genetics |
RCV001375030 | SCV001572318 | uncertain significance | Neurodevelopmental disorder | 2006-10-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001538538 | SCV001756204 | likely pathogenic | not provided | 2023-03-14 | 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; Other missense variants at the same residue (R2065S/G/H) and in nearby residues (R2062W, E2066K) reported in published literature or observed at GeneDx in patients with one or more features of CHARGE syndrome; however, the clinical significance of missense variants in this region remains uncertain (HGMD); This variant is associated with the following publications: (PMID: 29304373, 28475860, 25064402, 34348883, 25077900, 34297504) |