Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000251487 | SCV000307522 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000629525 | SCV000750471 | likely benign | Primary ciliary dyskinesia | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000629525 | SCV002639155 | likely benign | Primary ciliary dyskinesia | 2016-04-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |