Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000964673 | SCV001111902 | benign | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000964673 | SCV002806430 | benign | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2021-11-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003943134 | SCV004769796 | benign | DNAH1-related condition | 2019-08-09 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |