Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000003413 | SCV000290234 | benign | Primary ciliary dyskinesia 6 | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000242056 | SCV000312738 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002426482 | SCV002741003 | benign | Primary ciliary dyskinesia | 2019-09-23 | 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. |
OMIM | RCV000003413 | SCV000023571 | pathogenic | Primary ciliary dyskinesia 6 | 2007-02-27 | no assertion criteria provided | literature only | |
Gene |
RCV000003413 | SCV000086970 | not provided | Primary ciliary dyskinesia 6 | no assertion provided | literature only |