Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000635099 | SCV000756477 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2023-10-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002386005 | SCV002694366 | likely benign | Inborn genetic diseases | 2020-05-16 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Fulgent Genetics, |
RCV002477397 | SCV002798410 | likely benign | Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV | 2021-07-30 | criteria provided, single submitter | clinical testing |