ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.990+9A>G

gnomAD frequency: 0.00001  dbSNP: rs559532794
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Total submissions: 3
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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 RCV000218156 SCV000270782 likely benign not specified 2015-10-22 criteria provided, single submitter clinical testing c.990+9A>G in intron 9 of RAF1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2/5008 African Ca rribbean chromosomes by the 1000 Genomes Project (dbSNP rs559532794).
Labcorp Genetics (formerly Invitae), Labcorp RCV001500603 SCV001705395 likely benign RASopathy 2023-10-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710596 SCV005264568 likely benign not provided criteria provided, single submitter not provided

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