Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000865898 | SCV001006925 | likely benign | Alstrom syndrome | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001553150 | SCV001773966 | likely benign | not provided | 2019-03-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442818 | SCV002733553 | likely benign | Cardiovascular phenotype | 2019-03-28 | 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. |