Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001196856 | SCV001367489 | uncertain significance | Singleton-Merten syndrome 1 | 2019-03-20 | 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. |
Invitae | RCV001228695 | SCV001401109 | likely benign | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV004584425 | SCV002578056 | uncertain significance | See cases | 2021-12-15 | criteria provided, single submitter | clinical testing | ACMG categories: PM1,PM2 |