Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117189 | SCV000151353 | benign | not specified | 2014-03-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000117189 | SCV000168773 | benign | not specified | 2014-02-13 | 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. |
Labcorp Genetics |
RCV001083729 | SCV000562284 | benign | Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000117189 | SCV000613552 | benign | not specified | 2017-06-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311752 | SCV000846907 | benign | Inborn genetic diseases | 2016-02-24 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Ce |
RCV000084731 | SCV002497206 | benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | GRIN2B: BP4, BP7, BS1, BS2 |
Breakthrough Genomics, |
RCV000084731 | SCV005233663 | benign | not provided | criteria provided, single submitter | not provided | ||
Psychiatry Genetics Yale University | RCV000084731 | SCV000116867 | not provided | not provided | no assertion provided | not provided | ||
Prevention |
RCV004529881 | SCV004728351 | benign | GRIN2B-related disorder | 2019-05-16 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |