Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000632906 | SCV000754111 | benign | Pityriasis rubra pilaris; Psoriasis 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263860 | SCV002543237 | benign | Autoinflammatory syndrome | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965318 | SCV004781945 | benign | CARD14-related disorder | 2024-01-12 | 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). |