Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000889372 | SCV001033049 | benign | Familial hemophagocytic lymphohistiocytosis 5 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264051 | SCV002543009 | uncertain significance | Autoinflammatory syndrome | 2021-11-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948408 | SCV004773129 | likely benign | STXBP2-related disorder | 2020-03-10 | 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). |