Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001323210 | SCV001514117 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2023-06-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003442846 | SCV004169073 | uncertain significance | not provided | 2023-11-10 | criteria provided, single submitter | clinical testing | Has not been reported as pathogenic in association with an ATP7A-related disorder; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32528851) |