Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002278082 | SCV002566156 | uncertain significance | Ehlers-Danlos syndrome | 2021-06-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003101590 | SCV003499130 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2022-01-21 | criteria provided, single submitter | clinical testing |