Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153156 | SCV000202623 | uncertain significance | not provided | 2014-02-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078676 | SCV000624143 | likely benign | Primary ciliary dyskinesia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952746 | SCV004766743 | likely benign | DNAH11-related condition | 2023-12-27 | 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). |