Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000425016 | SCV000523554 | benign | not specified | 2016-02-09 | 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 | RCV001086166 | SCV000554324 | benign | Intellectual disability, autosomal dominant 8 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000425016 | SCV000595055 | likely benign | not specified | 2016-09-15 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000711869 | SCV000842276 | benign | not provided | 2018-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311483 | SCV000847023 | benign | Inborn genetic diseases | 2016-07-05 | 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. |