Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001218887 | SCV001390793 | likely benign | Primary ciliary dyskinesia | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002504271 | SCV002806894 | uncertain significance | Primary ciliary dyskinesia 7 | 2022-01-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003148949 | SCV003837432 | uncertain significance | not provided | 2022-08-29 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in an individual with primary ciliary dyskinesia who also harbored a likely pathogenic variant in DNAH11, although the phase of these two variants was not determined (Fassad et al., 2020); This variant is associated with the following publications: (PMID: 31879361) |