ClinVar Miner

Submissions for variant NM_001374258.1(BRAF):c.1503A>G (p.Gln501=) (rs56216404)

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Total submissions: 9
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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 RCV001719717 SCV000057206 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
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 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 Clinical Services Laboratory,Illumina RCV000278773 SCV000466976 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.
Invitae RCV000033301 SCV000563674 benign Rasopathy 2020-11-05 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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