Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000128316 | SCV000171908 | benign | not specified | 2013-05-03 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001084365 | SCV000633906 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000713559 | SCV000844181 | benign | not provided | 2018-03-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316425 | SCV000849478 | likely benign | Inborn genetic diseases | 2017-05-03 | 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. |
Eurofins Ntd Llc |
RCV000128316 | SCV000858216 | benign | not specified | 2017-11-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004551234 | SCV004728037 | likely benign | STXBP1-related disorder | 2024-01-08 | 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). |