Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002540748 | SCV001051072 | likely benign | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2023-07-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895514 | SCV004716902 | likely benign | DNAH1-related condition | 2022-12-15 | 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). |