Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001764800 | SCV001989264 | uncertain significance | not provided | 2020-01-24 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29907982) |
Fulgent Genetics, |
RCV002488525 | SCV002786297 | uncertain significance | Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome | 2021-09-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002538760 | SCV003010790 | benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2023-08-05 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004008989 | SCV004818607 | uncertain significance | Marfan syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |