Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224179 | SCV000281246 | uncertain significance | not provided | 2016-05-19 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Invitae | RCV001085262 | SCV000631991 | likely benign | Succinate-semialdehyde dehydrogenase deficiency | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000224179 | SCV001818886 | uncertain significance | not provided | 2023-04-27 | 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; This variant is associated with the following publications: (PMID: 25553455, 25617482) |
Clinical Molecular Genetics Laboratory, |
RCV000678775 | SCV000804954 | uncertain significance | EEG abnormality | 2016-09-02 | no assertion criteria provided | clinical testing |