Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175086 | SCV000226514 | benign | not specified | 2015-02-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000175086 | SCV000312727 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000473128 | SCV000560647 | likely benign | Primary ciliary dyskinesia 6 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390428 | SCV002702461 | benign | Primary ciliary dyskinesia | 2016-05-20 | 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. |