Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000640910 | SCV000762514 | benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003437353 | SCV004165922 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | ATP7A: BP4, BP7 |