Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000203865 | SCV000262507 | benign | Primary ciliary dyskinesia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000254520 | SCV000307462 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001731522 | SCV001982030 | likely benign | not provided | 2021-09-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000203865 | SCV002689700 | benign | Primary ciliary dyskinesia | 2015-08-17 | 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. |