Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001428178 | SCV001630871 | likely benign | Primary ciliary dyskinesia | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965813 | SCV004793660 | likely benign | DNAH8-related condition | 2019-05-01 | 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). |