Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000416018 | SCV000493683 | uncertain significance | not provided | 2016-09-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087633 | SCV000762515 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000416018 | SCV001804827 | uncertain significance | not provided | 2022-12-05 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |