Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000550014 | SCV000624052 | likely benign | Primary ciliary dyskinesia | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915476 | SCV004733891 | likely benign | DNAH8-related condition | 2023-08-30 | 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). |