Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001806502 | SCV002050399 | uncertain significance | not provided | 2021-06-29 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002482330 | SCV002778526 | uncertain significance | Mitochondrial complex 4 deficiency, nuclear type 4 | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004040902 | SCV004946127 | likely benign | Inborn genetic diseases | 2023-09-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |