ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly) (rs545495379)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000521582 SCV000616459 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.1150A>G (p.Arg384Gly) variant in the BRAF gene is 0.116% (16/8646) of East Asian 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)
Invitae RCV000521582 SCV000659069 likely benign Rasopathy 2017-07-21 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.