Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002262013 | SCV002543513 | uncertain significance | Autoinflammatory syndrome | 2017-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003514546 | SCV004327184 | likely benign | Lymphoproliferative syndrome 1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003896095 | SCV004715284 | likely benign | ITK-related disorder | 2021-02-09 | 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). |