Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001082784 | SCV000754116 | benign | Pityriasis rubra pilaris; Psoriasis 2 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262612 | SCV002543247 | likely benign | Autoinflammatory syndrome | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000059694 | SCV004185086 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | CARD14: BP4, BS1, BS2 |
Prevention |
RCV003925021 | SCV004743380 | likely benign | CARD14-related disorder | 2024-02-15 | 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). |
Uni |
RCV000059694 | SCV000091264 | not provided | not provided | no assertion provided | not provided |