Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000795782 | SCV000935257 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2022-07-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001334114 | SCV001526860 | uncertain significance | Epilepsy, childhood absence, susceptibility to, 6 | 2018-05-15 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ambry Genetics | RCV002537008 | SCV003706163 | likely benign | Inborn genetic diseases | 2022-06-24 | 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. |