Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037904 | SCV000061566 | likely benign | not specified | 2012-02-16 | criteria provided, single submitter | clinical testing | Arg362Arg in exon 8 or BRAF: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence, has been identified in 0.03% (1/3738) of African A merican chromosomes from a broad population by the NHLBI Exome Sequencing Projec t (http://evs.gs.washington.edu/EVS/; dbSNP rs149230176). |
Invitae | RCV001457681 | SCV001661485 | likely benign | RASopathy | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000459305 | SCV001903722 | benign | not provided | 2015-04-23 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813333 | SCV002060457 | likely benign | Noonan syndrome and Noonan-related syndrome | 2020-03-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426564 | SCV002731467 | likely benign | Cardiovascular phenotype | 2022-03-21 | 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. |