Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000884762 | SCV001028162 | benign | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920615 | SCV004735428 | likely benign | DNAH1-related condition | 2023-05-30 | 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). |