Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV001509379 | SCV001716052 | uncertain significance | not provided | 2019-11-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001509379 | SCV002007301 | uncertain significance | not provided | 2020-10-02 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014) |
Labcorp Genetics |
RCV003759053 | SCV004547877 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-02-08 | criteria provided, single submitter | clinical testing |