Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000896591 | SCV001040690 | benign | Pityriasis rubra pilaris; Psoriasis 2 | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264066 | SCV002543289 | likely benign | Autoinflammatory syndrome | 2022-05-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003958061 | SCV004772820 | likely benign | CARD14-related disorder | 2022-04-25 | 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). |