Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000632898 | SCV000754103 | likely benign | Pityriasis rubra pilaris; Psoriasis 2 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263855 | SCV002543236 | likely benign | Autoinflammatory syndrome | 2017-12-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935759 | SCV004757317 | likely benign | CARD14-related disorder | 2022-08-23 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |