Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001796543 | SCV001726212 | benign | Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264371 | SCV002543414 | uncertain significance | Autoinflammatory syndrome | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900770 | SCV004716029 | likely benign | ELANE-related disorder | 2022-05-11 | 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). |