Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000197860 | SCV000252841 | benign | Primary ciliary dyskinesia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000242670 | SCV000313070 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000197860 | SCV002719399 | benign | Primary ciliary dyskinesia | 2022-05-11 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |