Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000868675 | SCV001010035 | benign | Primary ciliary dyskinesia | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003930375 | SCV004741051 | likely benign | DNAI2-related condition | 2019-10-28 | 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). |
Natera, |
RCV000868675 | SCV001459325 | likely benign | Primary ciliary dyskinesia | 2020-06-17 | no assertion criteria provided | clinical testing |