Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658090 | SCV000779861 | uncertain significance | not provided | 2020-09-17 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002534270 | SCV003472737 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2023-01-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001835901 | SCV002089083 | uncertain significance | Menkes kinky-hair syndrome | 2019-10-28 | no assertion criteria provided | clinical testing |