Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001065569 | SCV001230533 | likely benign | Vasculitis due to ADA2 deficiency | 2023-10-30 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001065569 | SCV001519972 | uncertain significance | Vasculitis due to ADA2 deficiency | 2020-03-06 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genome Diagnostics Laboratory, |
RCV002264174 | SCV002543359 | uncertain significance | Autoinflammatory syndrome | 2020-08-05 | criteria provided, single submitter | clinical testing |