Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001197802 | SCV001368581 | uncertain significance | Lymphangiomyomatosis | 2018-12-03 | 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: PM2. |
Invitae | RCV003512110 | SCV004274613 | likely benign | Tuberous sclerosis 2 | 2023-07-24 | criteria provided, single submitter | clinical testing |