ClinVar Miner

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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