Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000918971 | SCV001064302 | benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001555413 | SCV001776831 | likely benign | not provided | 2021-03-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003902981 | SCV004719463 | likely benign | ATP7A-related condition | 2019-08-09 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001825851 | SCV002089066 | likely benign | Menkes kinky-hair syndrome | 2020-07-10 | no assertion criteria provided | clinical testing |