ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.-281C>G

gnomAD frequency: 0.01090  dbSNP: rs61761285
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151723 SCV000200057 benign not specified 2015-07-16 criteria provided, single submitter clinical testing c.-281C>G in the 5' UTR of RAF1: This variant is not expected to have clinical s ignificance because it has been identified in 4.4% (58/1322) of African chromoso mes by the 1000 Genomes Project (dbSNP rs61761285).
Illumina Laboratory Services, Illumina RCV000382412 SCV000440655 benign LEOPARD syndrome 2 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 Laboratory Services, Illumina RCV000286850 SCV000440656 benign Noonan syndrome 5 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.
GeneDx RCV001682722 SCV001903995 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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