Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440811 | SCV000529309 | benign | not specified | 2016-12-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Center for Human Genetics, |
RCV000660142 | SCV000782136 | likely benign | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002059758 | SCV002480329 | benign | Adams-Oliver syndrome 5 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002059758 | SCV002555047 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270381 | SCV002555048 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000440811 | SCV004029554 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |