Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001266153 | SCV001444325 | uncertain significance | Inborn genetic diseases | 2017-07-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002469365 | SCV002765668 | uncertain significance | not provided | 2022-12-14 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has been reported in a patient with neuroregression, leukoencephalopathy, and seizures (Bindu et al., 2018a, Bindu et al. 2018b; Sankaran et al., 2020); This variant is associated with the following publications: (PMID: 29272804, 31180159, 32180488, 29353736) |
Genome- |
RCV003346418 | SCV004048816 | uncertain significance | Mitochondrial complex 1 deficiency, nuclear type 6 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002469365 | SCV004325417 | likely benign | not provided | 2023-04-14 | criteria provided, single submitter | clinical testing |