Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000820554 | SCV000961271 | likely benign | Ehlers-Danlos syndrome, type 4 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000820554 | SCV004828084 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-08-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004588293 | SCV005079113 | uncertain significance | not provided | 2023-12-06 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing |