Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001217725 | SCV001389576 | benign | Kleefstra syndrome 1 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001773485 | SCV001992745 | uncertain significance | not provided | 2019-06-21 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ai |
RCV001773485 | SCV002501443 | uncertain significance | not provided | 2021-06-05 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002249809 | SCV002519175 | benign | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252332 | SCV002523334 | uncertain significance | See cases | 2019-11-01 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 |