ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1383A>G (p.Gln461=) (rs56216404)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000033301 SCV000616457 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.1383A>G (p.Gln461=) variant in the BRAF gene is 0.986% (120/10404) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
GeneDx RCV000033301 SCV000057206 poly Rasopathy criteria provided, single submitter clinical testing Converted during submission to Benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037913 SCV000061575 benign not specified 2011-08-03 criteria provided, single submitter clinical testing Gln461Gln in exon 11 of BRAF: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located near a splice junction. In addition, this variant has been reported to have a freque ncy of 1.5% in the general population (Greenman 2007, Velangi 2004, Davies 2002, rs56216404).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037913 SCV000112808 benign not specified 2014-03-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318318 SCV000466974 likely benign Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372942 SCV000466975 likely benign Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278773 SCV000466976 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000858597 SCV000563674 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000037913 SCV001158776 benign not specified 2019-03-21 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000037913 SCV000207626 benign not specified 2015-01-15 no assertion criteria provided clinical testing

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