Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039474 | SCV000063159 | likely benign | not specified | 2014-02-04 | criteria provided, single submitter | clinical testing | Asn82Asn in exon 2 of MAP2K2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, it is not located with in the splice consensus sequence, and it has been identified in 2/8600 European American chromosomes from a large population study by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; rs150942310). |
Gene |
RCV000039474 | SCV000207954 | benign | not specified | 2014-08-28 | 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 | RCV002054764 | SCV002397969 | likely benign | RASopathy | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453321 | SCV002738267 | likely benign | Cardiovascular phenotype | 2022-08-08 | 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. |