Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145985 | SCV000193134 | likely benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000145985 | SCV000241024 | likely benign | not specified | 2016-12-01 | 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 | RCV000576256 | SCV000676977 | benign | Rett syndrome, congenital variant | 2023-12-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316930 | SCV000851014 | likely benign | Inborn genetic diseases | 2017-12-06 | 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. |
Revvity Omics, |
RCV000576256 | SCV003833645 | uncertain significance | Rett syndrome, congenital variant | 2021-03-17 | criteria provided, single submitter | clinical testing |