Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703031 | SCV000831911 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003437402 | SCV004165908 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | ATP7A: BP4 |
Natera, |
RCV001830553 | SCV002089032 | likely benign | Menkes kinky-hair syndrome | 2019-10-28 | no assertion criteria provided | clinical testing |