Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001280311 | SCV002391041 | likely benign | Primary ciliary dyskinesia | 2023-09-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001280311 | SCV002658214 | likely benign | Primary ciliary dyskinesia | 2022-03-25 | 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. |
Fulgent Genetics, |
RCV002486071 | SCV002797303 | likely benign | Primary ciliary dyskinesia 3 | 2022-05-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001280311 | SCV001467482 | uncertain significance | Primary ciliary dyskinesia | 2020-09-04 | no assertion criteria provided | clinical testing |