Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000269079 | SCV000342088 | benign | not specified | 2016-05-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000269079 | SCV000525695 | benign | not specified | 2016-09-30 | 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 | RCV001517577 | SCV001726100 | benign | Adams-Oliver syndrome 5 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001517577 | SCV002554278 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270210 | SCV002554279 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000269079 | SCV003928440 | benign | not specified | 2023-04-10 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000269079 | SCV001808654 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000269079 | SCV001924732 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000269079 | SCV001959571 | benign | not specified | no assertion criteria provided | clinical testing |