Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000680517 | SCV000807904 | uncertain significance | Connective tissue disorder | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001861881 | SCV002140037 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-11-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002279482 | SCV002567401 | uncertain significance | not provided | 2022-08-18 | criteria provided, single submitter | clinical testing | 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; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV003144479 | SCV003833746 | uncertain significance | Ehlers-Danlos syndrome, classic type, 2 | 2022-11-02 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV002279482 | SCV004225965 | uncertain significance | not provided | 2022-06-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004702314 | SCV005205316 | uncertain significance | not specified | 2024-06-04 | criteria provided, single submitter | clinical testing |