Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145668 | SCV000192770 | uncertain significance | CHARGE association | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000145668 | SCV001387609 | benign | CHARGE association | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003162603 | SCV003876564 | likely benign | Inborn genetic diseases | 2023-03-13 | 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. |