Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000417787 | SCV000532985 | uncertain significance | not provided | 2022-03-29 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing |
Invitae | RCV003640897 | SCV004538271 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-04-20 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000417787 | SCV004563507 | likely benign | not provided | 2023-10-27 | criteria provided, single submitter | clinical testing |