Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039491 | SCV000063180 | likely benign | not specified | 2011-04-15 | criteria provided, single submitter | clinical testing | Ser226Ser in exon 6 of MAP2K2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located nea r a splice junction. |
Gene |
RCV000039491 | SCV000170183 | benign | not specified | 2013-05-07 | 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. |
Prevention |
RCV000039491 | SCV000314700 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV000654987 | SCV000776902 | likely benign | RASopathy | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000039491 | SCV001482074 | benign | not specified | 2021-02-08 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV003237418 | SCV002010928 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362632 | SCV002663760 | likely benign | Cardiovascular phenotype | 2022-03-03 | 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. |