Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000939588 | SCV001085437 | likely benign | Pityriasis rubra pilaris; Psoriasis 2 | 2023-02-22 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264106 | SCV002543304 | uncertain significance | Autoinflammatory syndrome | 2021-03-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925830 | SCV004743746 | likely benign | CARD14-related disorder | 2019-05-28 | 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). |