Submissions for variant NM_004333.6(BRAF):c.1992+16G>C

dbSNP: rs3789806

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000033340	SCV000057245	poly	RASopathy		criteria provided, single submitter	clinical testing	Converted during submission to Benign.
Eurofins Ntd Llc (ga)	RCV000077866	SCV000058309	benign	not specified	2015-05-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000077866	SCV000310113	benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000077866	SCV000538428	benign	not specified	2016-04-25	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 4109/13006=31.59%
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000077866	SCV001360824	benign	not specified	2019-08-12	criteria provided, single submitter	clinical testing	Variant summary: BRAF c.1992+16G>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.2 in 250290 control chromosomes, predominantly at a frequency of 0.67 within the African or African-American subpopulation in the gnomAD database, including 3698 homozygotes. Therefore, suggesting the variant is the major allele in population(s) of African American origin. Three ClinVar submissions (evaluation after 2014) cite the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
Invitae	RCV000033340	SCV002408827	benign	RASopathy	2024-02-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496498	SCV002808092	likely benign	Cardiofaciocutaneous syndrome 1; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer	2021-12-12	criteria provided, single submitter	clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV000077866	SCV000207629	benign	not specified	2015-01-15	no assertion criteria provided	clinical testing
GenomeConnect, ClinGen	RCV000509409	SCV000607338	not provided	not provided		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.