Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000632902 | SCV000754107 | benign | Pityriasis rubra pilaris; Psoriasis 2 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263856 | SCV002543242 | likely benign | Autoinflammatory syndrome | 2021-01-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003884675 | SCV004698981 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | CARD14: BP4, BP7 |
Prevention |
RCV003945588 | SCV004758714 | benign | CARD14-related disorder | 2022-10-17 | 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). |