Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000550411 | SCV000639985 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001547294 | SCV001766960 | uncertain significance | not provided | 2021-05-11 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 465118; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Natera, |
RCV001834780 | SCV002089094 | likely benign | Menkes kinky-hair syndrome | 2019-10-28 | no assertion criteria provided | clinical testing |