Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000276698 | SCV000425625 | uncertain significance | Ehlers-Danlos syndrome type 7A | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002229880 | SCV001417880 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-06-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001545361 | SCV001764683 | uncertain significance | not provided | 2023-10-17 | 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 that this missense variant does not alter protein structure/function |
Fulgent Genetics, |
RCV002487480 | SCV002782750 | uncertain significance | Ehlers-Danlos syndrome, classic type, 2 | 2021-10-08 | criteria provided, single submitter | clinical testing |