Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000877699 | SCV001020475 | likely benign | KBG syndrome | 2023-06-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001593115 | SCV001823521 | likely benign | not provided | 2020-07-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002346038 | SCV002653385 | likely benign | Inborn genetic diseases | 2017-12-18 | 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. |