Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313568 | SCV000848662 | likely benign | Inborn genetic diseases | 2017-01-03 | 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 | RCV000866064 | SCV001007109 | likely benign | CHARGE association | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001595036 | SCV001829337 | likely benign | not provided | 2020-09-03 | criteria provided, single submitter | clinical testing |