Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316167 | SCV000847794 | likely benign | Primary ciliary dyskinesia; Inborn genetic diseases | 2016-09-08 | 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. |
Invitae | RCV002060909 | SCV002462924 | likely benign | Familial aplasia of the vermis; Orofaciodigital syndrome I | 2023-11-17 | criteria provided, single submitter | clinical testing |