Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554894 | SCV000629247 | benign | Pityriasis rubra pilaris; Psoriasis 2 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263756 | SCV002543295 | likely benign | Autoinflammatory syndrome | 2021-08-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003409770 | SCV004146306 | benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | CARD14: BS1, BS2 |
Prevention |
RCV003915495 | SCV004731194 | benign | CARD14-related disorder | 2019-04-01 | 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). |