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

gnomAD frequency: 0.01088  dbSNP: rs371877084

Total submissions: 18

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).
Eurofins Ntd Llc (ga)	RCV000037961	SCV000058312	benign	not specified	2016-04-20	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham 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	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000037961	SCV000310117	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, 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 Laboratory Services, 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	RCV000224291	SCV000602656	benign	not provided	2023-03-02	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
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813217	SCV002060476	benign	Noonan syndrome and Noonan-related syndrome	2021-03-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000037961	SCV002069863	benign	not specified	2018-06-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415445	SCV002681109	benign	Cardiovascular phenotype	2019-11-20	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224291	SCV001798400	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037961	SCV001917584	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037961	SCV001959259	benign	not specified		no assertion criteria provided	clinical testing