ClinVar Miner

Submissions for variant NM_002880.3(RAF1):c.-415-1C>G

gnomAD frequency: 0.01127  dbSNP: rs61730434
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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 RCV000154583 SCV000204256 benign not specified 2011-06-01 criteria provided, single submitter clinical testing -415-1C>G in the 5'UTR of RAF1: This variant is not expected to have clinical si gnificance because it has been identified in 4.2% of the Yoruba population and i n 1.3% in a mixed population consisting of Caucasian and African American health y females (rs61730434). In addition, it has been identified by our laboratory in four individuals, one of whom also has a pathogenic PTPN11 variant.
Illumina Laboratory Services, Illumina RCV000361920 SCV000484015 likely benign Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000260472 SCV000484016 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001589010 SCV001823113 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing

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