Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000437412 | SCV000524331 | benign | not specified | 2016-09-22 | 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. |
Invitae | RCV001519883 | SCV001728843 | benign | Adams-Oliver syndrome 5 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001519883 | SCV002026857 | benign | Adams-Oliver syndrome 5 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001785613 | SCV002026858 | benign | Aortic valve disease 1 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000437412 | SCV003928458 | benign | not specified | 2023-04-04 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000437412 | SCV001742355 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000437412 | SCV001808730 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000437412 | SCV001917577 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000437412 | SCV001952204 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000437412 | SCV001968674 | benign | not specified | no assertion criteria provided | clinical testing |