Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001426075 | SCV001628720 | likely benign | Familial hemophagocytic lymphohistiocytosis 5 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908621 | SCV004720318 | likely benign | STXBP2-related disorder | 2019-06-19 | no assertion criteria provided | 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). |