Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000864689 | SCV001005526 | likely benign | Primary ciliary dyskinesia | 2023-12-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000864689 | SCV002656618 | likely benign | Primary ciliary dyskinesia | 2016-01-11 | 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. |
Revvity Omics, |
RCV003145214 | SCV003831705 | uncertain significance | Primary ciliary dyskinesia 7 | 2022-07-14 | criteria provided, single submitter | clinical testing |