Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000259524 | SCV000468158 | uncertain significance | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000259524 | SCV002479374 | likely benign | Primary ciliary dyskinesia | 2023-11-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003950275 | SCV004757774 | likely benign | DNAH11-related condition | 2019-10-14 | 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). |