Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316145 | SCV000847747 | likely benign | Inborn genetic diseases | 2016-09-02 | 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. |
Ce |
RCV001171969 | SCV001334891 | likely benign | not provided | 2020-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003768127 | SCV004604864 | likely benign | Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 | 2023-08-23 | criteria provided, single submitter | clinical testing |