Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001495291 | SCV001699969 | likely benign | Familial hemophagocytic lymphohistiocytosis 5 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264061 | SCV002542984 | likely benign | Autoinflammatory syndrome | 2021-02-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920818 | SCV004736358 | likely benign | STXBP2-related disorder | 2019-05-24 | 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). |