Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001196430 | SCV001367038 | uncertain significance | Achondrogenesis type II | 2019-10-10 | 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: No criteria apply. |
Invitae | RCV002560221 | SCV002931863 | likely benign | not provided | 2023-06-21 | criteria provided, single submitter | clinical testing |