Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001413876 | SCV001615998 | likely benign | Primary ciliary dyskinesia | 2022-01-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003973252 | SCV004787116 | likely benign | DNAH5-related condition | 2019-03-29 | 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). |