Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179950 | SCV000232271 | benign | not specified | 2015-06-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000179950 | SCV000312739 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000459051 | SCV000560648 | benign | Primary ciliary dyskinesia 6 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426860 | SCV002741411 | benign | Primary ciliary dyskinesia | 2018-08-17 | 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. |