ClinVar Miner

Submissions for variant NM_001374258.1(BRAF):c.78G>T (p.Glu26Asp) (rs371877084)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033269 SCV000057174 benign Rasopathy 2012-01-10 criteria provided, single submitter clinical testing The variant is found in NOONAN panel(s).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000037961 SCV000058312 benign not specified 2016-04-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037961 SCV000061627 benign not specified 2017-03-28 criteria provided, single submitter clinical testing p.Glu26Asp in exon 1 of BRAF: This variant is not expected to have clinical sign ificance because it has been identified in 1.7% (26/1496) of African American ch romosomes from a large population study by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS/; dbSNP rs371877084).
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224291 SCV000281152 likely benign not provided 2015-10-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000033269 SCV000288408 benign Rasopathy 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037961 SCV000310117 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381670 SCV000466998 benign LEOPARD syndrome 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001095196 SCV000466999 likely benign Noonan syndrome 7 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282189 SCV000602656 benign none provided 2019-09-15 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659284 SCV000781084 benign Cardiofaciocutaneous syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
ITMI RCV000037961 SCV000084408 not provided not specified 2013-09-19 no assertion provided reference population
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000289594 SCV000965962 likely benign Noonan syndrome no assertion criteria provided 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.