Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000473457 | SCV000513370 | likely benign | not provided | 2021-03-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001419694 | SCV001621954 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2021-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411297 | SCV002675802 | likely benign | Inborn genetic diseases | 2017-08-07 | 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 |
RCV000473457 | SCV004150931 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | KCNQ2: BP4, BP7 |
Prevention |
RCV003950356 | SCV004763533 | likely benign | KCNQ2-related condition | 2024-01-25 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |