Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003238732 | SCV003936820 | uncertain significance | Rett syndrome | 2023-05-05 | reviewed by expert panel | curation | The p.Cys413Arg variant in MECP2 (NM_004992.3) is absent from gnomAD (PM2_Supporting). The p.Cys413Arg variant in MECP2 (NM_004992.3) is found in a patient with an alternate molecular basis of disease (internal database) (BP5). In summary the p.Cys413Arg variant in MECP2 (NM_004992.3) is classified as a variant of unknown significance based on the ACMG/AMP criteria (PM2_Supporting, BP5). |
Genetic Services Laboratory, |
RCV000194480 | SCV000247945 | uncertain significance | not specified | 2015-01-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000194480 | SCV000517862 | likely benign | not specified | 2015-07-17 | 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. |