Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000545525 | SCV000646438 | benign | Intellectual disability, autosomal dominant 5 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000545525 | SCV001368783 | uncertain significance | Intellectual disability, autosomal dominant 5 | 2019-05-07 | 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: BP4. |
Gene |
RCV001584301 | SCV001812611 | likely benign | not provided | 2020-08-05 | criteria provided, single submitter | clinical testing |