Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000860652 | SCV001000769 | likely benign | Primary ciliary dyskinesia | 2024-01-25 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV001836913 | SCV002097931 | uncertain significance | Primary ciliary dyskinesia 7 | 2021-03-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002286793 | SCV002576836 | uncertain significance | not provided | 2022-03-30 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003955565 | SCV004773449 | likely benign | DNAH11-related condition | 2023-03-08 | 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). |