Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527446 | SCV000624079 | benign | Primary ciliary dyskinesia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002225647 | SCV002504299 | likely benign | not provided | 2021-02-17 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ambry Genetics | RCV000527446 | SCV002727414 | benign | Primary ciliary dyskinesia | 2017-09-28 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ce |
RCV002225647 | SCV004163816 | benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | DNAH11: BP4, BS1, BS2 |