Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000458075 | SCV000616580 | benign | RASopathy | 2017-05-09 | reviewed by expert panel | curation | The filtering allele frequency of the c.498C>T (p.Pro166=) variant in the MAP2K2 gene is 0.081% (37/33932) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581) |
Laboratory for Molecular Medicine, |
RCV000039485 | SCV000063173 | likely benign | not specified | 2012-11-13 | criteria provided, single submitter | clinical testing | Pro166Pro in exon 4 of MAP2K2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.13% (11/8600) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/; dbSNP rs139404261). |
Prevention |
RCV000039485 | SCV000314690 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000458075 | SCV000561660 | benign | RASopathy | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726603 | SCV000701758 | uncertain significance | not provided | 2016-10-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726603 | SCV001939678 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813313 | SCV002060577 | benign | Noonan syndrome and Noonan-related syndrome | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000726603 | SCV002063706 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | MAP2K2: BP4, BP7 |
Ambry Genetics | RCV002336106 | SCV002643524 | benign | Cardiovascular phenotype | 2020-11-30 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Clinical Genetics, |
RCV000039485 | SCV001920797 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000726603 | SCV001967048 | likely benign | not provided | no assertion criteria provided | clinical testing |