Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000149844 | SCV000616583 | benign | RASopathy | 2017-05-09 | reviewed by expert panel | curation | The filtering allele frequency of the c.405G>C (p.Gly135=) variant in the MAP2K2 gene is 14.69% (1588/10368) of African 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, |
RCV000039480 | SCV000063167 | benign | not specified | 2008-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000039480 | SCV000314686 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000149844 | SCV000561663 | benign | RASopathy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000999815 | SCV000885672 | benign | Cardiofaciocutaneous syndrome 4 | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711143 | SCV001939674 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813312 | SCV002060574 | benign | Noonan syndrome and Noonan-related syndrome | 2021-06-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002321501 | SCV002631953 | benign | Cardiovascular phenotype | 2019-07-05 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Baylor Genetics | RCV000149844 | SCV000196689 | benign | RASopathy | no assertion criteria provided | clinical testing | Variant classified using ACMG guidelines | |
Clinical Genetics, |
RCV000039480 | SCV001921139 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000039480 | SCV001958806 | benign | not specified | no assertion criteria provided | clinical testing |