Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000370562 | SCV000469926 | likely benign | Cutis laxa, autosomal dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000273714 | SCV000469927 | likely benign | Supravalvar aortic stenosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000273714 | SCV002356697 | benign | Supravalvar aortic stenosis | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001701704 | SCV001927905 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001723766 | SCV001951606 | benign | not specified | no assertion criteria provided | clinical testing |