Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000636449 | SCV000757888 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-08-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315957 | SCV000849354 | likely benign | Inborn genetic diseases | 2017-04-14 | 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. |
Prevention |
RCV003945604 | SCV004758909 | likely benign | KCNQ2-related condition | 2019-03-22 | 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). |