Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000766263 | SCV000897683 | likely pathogenic | Ehlers-Danlos syndrome, classic type | 2018-11-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002473128 | SCV002770335 | uncertain significance | not provided | 2022-06-21 | criteria provided, single submitter | clinical testing | Reported in an individual with a connective tissue disorder (Renner et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30675029) |