Submissions for variant NM_004333.6(BRAF):c.-5A>G (rs71645936)

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Total submissions: 6

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000123874	SCV000337858	likely benign	not specified	2015-12-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000123874	SCV000167218	benign	not specified	2013-04-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina	RCV000407859	SCV000467004	likely benign	Noonan syndrome with multiple lentigines	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000301216	SCV000467005	likely benign	Noonan syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000335004	SCV000467006	likely benign	Cardio-facio-cutaneous syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Integrated Genetics/Laboratory Corporation of America	RCV000587286	SCV000698343	benign	not provided	2017-02-27	criteria provided, single submitter	clinical testing	Variant summary: The BRAF c.-5A>G variant involves the alteration of a non-conserved nucleotide in 5 UTR region. This variant was found in 10/5008 control chromosomes from 1000 Genomes at a frequency of 0.0019968, which is approximately 799 times the estimated maximal expected allele frequency of a pathogenic BRAF variant (0.0000025. The variant is found in East Asian population with an allele frequency of 1% (10/1008), suggesting it is a benign polymorphism mainly found in East Asian population. The allele frequency of this variant in ExAC and gnomad (early version) is 1.5% (2/130 chromosomes) and 1.3% (97/7260 chromosomes), respectively. In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as benign/likely benign. Taken together, this variant is classified as Benign.

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