Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000793378 | SCV000932726 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279531 | SCV002566245 | uncertain significance | Ehlers-Danlos syndrome | 2019-11-01 | criteria provided, single submitter | clinical testing |