Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000473645 | SCV000554244 | benign | Developmental and epileptic encephalopathy, 36 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001712422 | SCV000713950 | likely benign | not provided | 2020-04-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29314583) |
Genome- |
RCV000473645 | SCV002524904 | benign | Developmental and epileptic encephalopathy, 36 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365673 | SCV002623600 | likely benign | Inborn genetic diseases | 2017-12-15 | 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 |
RCV003942501 | SCV004764158 | likely benign | ALG13-related condition | 2019-10-21 | 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). |