Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312303 | SCV000846256 | likely benign | Inborn genetic diseases | 2016-04-18 | 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 | RCV000877247 | SCV001019956 | benign | KBG syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001675954 | SCV001892741 | benign | not provided | 2019-04-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000877247 | SCV002525194 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing |