Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000536186 | SCV000518069 | likely benign | not provided | 2019-12-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002524866 | SCV000647880 | likely benign | EAST syndrome | 2023-09-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365491 | SCV002662391 | likely benign | Inborn genetic diseases | 2017-05-31 | 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. |