Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192317 | SCV000247515 | uncertain significance | not specified | 2014-12-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000192317 | SCV000524105 | likely benign | not specified | 2017-12-06 | 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 | RCV001089362 | SCV000651691 | likely benign | Intellectual disability, autosomal dominant 8 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317686 | SCV000851578 | likely benign | Inborn genetic diseases | 2017-03-16 | 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. |
Athena Diagnostics | RCV000540707 | SCV001144112 | benign | not provided | 2019-03-05 | criteria provided, single submitter | clinical testing |