Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000466627 | SCV000551750 | likely benign | Primary ciliary dyskinesia | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002523347 | SCV003683249 | likely benign | Inborn genetic diseases | 2022-08-29 | 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. |