Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001487940 | SCV001692439 | likely benign | Primary ciliary dyskinesia | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908747 | SCV004727286 | likely benign | DNAH11-related condition | 2019-08-09 | 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). |