Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000253894 | SCV000303618 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000456928 | SCV000557298 | benign | Primary ciliary dyskinesia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001689791 | SCV001906739 | benign | not provided | 2018-07-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000456928 | SCV002731770 | benign | Primary ciliary dyskinesia | 2014-12-28 | 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. |