Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501793 | SCV000595059 | likely benign | not specified | 2016-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316287 | SCV000850004 | likely benign | Inborn genetic diseases | 2016-05-18 | 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 | RCV001083103 | SCV001007421 | likely benign | Landau-Kleffner syndrome | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000084746 | SCV004141113 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | GRIN2A: BP4, BP7 |
Psychiatry Genetics Yale University | RCV000084746 | SCV000116882 | not provided | not provided | no assertion provided | not provided |