ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) (rs371877084)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000037961 SCV000602656 benign not specified 2016-11-11 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659284 SCV000781084 benign Cardiofaciocutaneous syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037961 SCV000058312 benign not specified 2016-04-20 criteria provided, single submitter clinical testing
GeneDx RCV000033269 SCV000057174 benign Rasopathy 2012-01-10 criteria provided, single submitter clinical testing The variant is found in NOONAN panel(s).
ITMI RCV000037961 SCV000084408 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000381670 SCV000466998 likely benign Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289594 SCV000466999 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341988 SCV000467000 likely benign Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000033269 SCV000288408 benign Rasopathy 2017-12-22 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).
PreventionGenetics RCV000037961 SCV000310117 benign not specified criteria provided, single submitter clinical testing
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000289594 SCV000965962 likely benign Noonan syndrome no assertion criteria provided clinical testing

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