Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540147 | SCV000629246 | benign | Pityriasis rubra pilaris; Psoriasis 2 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692167 | SCV001913818 | benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263755 | SCV002543294 | benign | Autoinflammatory syndrome | 2022-02-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925595 | SCV004740764 | benign | CARD14-related disorder | 2019-05-22 | 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). |