Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000560204 | SCV000629256 | benign | Pityriasis rubra pilaris; Psoriasis 2 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263760 | SCV002543330 | benign | Autoinflammatory syndrome | 2022-03-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905337 | SCV004719349 | benign | CARD14-related disorder | 2019-10-02 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |