Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001722269 | SCV000291937 | likely benign | not provided | 2018-07-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001795377 | SCV001018926 | likely benign | Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant | 2023-11-14 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262839 | SCV002543432 | benign | Autoinflammatory syndrome | 2022-04-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001722269 | SCV004138995 | benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | ELANE: BS1, BS2 |
Prevention |
RCV003947803 | SCV004759955 | likely benign | ELANE-related disorder | 2021-01-15 | 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). |
Genetic Services Laboratory, |
RCV003151002 | SCV003839466 | likely benign | not specified | 2022-11-30 | no assertion criteria provided | clinical testing |