Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192325 | SCV000247598 | likely benign | not specified | 2015-03-06 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000439729 | SCV000510743 | uncertain significance | not provided | 2016-11-22 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Invitae | RCV001084682 | SCV001131907 | likely benign | D-2-hydroxyglutaric aciduria 2 | 2023-07-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000439729 | SCV001985204 | uncertain significance | not provided | 2021-05-11 | criteria provided, single submitter | clinical testing | 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 |
Baylor- |
RCV002467652 | SCV002764248 | uncertain significance | Enchondromatosis | criteria provided, single submitter | research |