Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000545392 | SCV000629255 | benign | Pityriasis rubra pilaris; Psoriasis 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811034 | SCV001472216 | likely benign | not provided | 2020-03-23 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263759 | SCV002543325 | likely benign | Autoinflammatory syndrome | 2022-03-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003979948 | SCV004799588 | benign | CARD14-related disorder | 2019-05-01 | 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). |