Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000624896 | SCV000741045 | pathogenic | Inborn genetic diseases | 2015-09-18 | criteria provided, single submitter | clinical testing | |
Equipe Genetique des Anomalies du Developpement, |
RCV000677703 | SCV000803853 | likely pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome | 2017-08-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002285376 | SCV002575652 | pathogenic | not provided | 2022-03-16 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26986877, 32484994) |