Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000499997 | SCV000594823 | uncertain significance | not specified | 2016-08-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002231175 | SCV000942706 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001196653 | SCV001367273 | uncertain significance | Cardiac valvular dysplasia, X-linked | 2019-09-09 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3. |
Gene |
RCV001764485 | SCV001988629 | uncertain significance | not provided | 2019-07-15 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |