Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194742 | SCV000247517 | uncertain significance | not specified | 2015-07-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697233 | SCV000723375 | likely benign | not provided | 2021-02-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000649668 | SCV000771497 | likely benign | Intellectual disability, autosomal dominant 8 | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426923 | SCV002741084 | likely benign | Inborn genetic diseases | 2018-06-22 | 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. |