ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.2128-10T>C

gnomAD frequency: 0.00001  dbSNP: rs397516898
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Total submissions: 2
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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 RCV000037941 SCV000061606 likely benign not specified 2012-05-09 criteria provided, single submitter clinical testing 2128-10T>C in intron 17 of BRAF: This variant is located in the 3' splice region but does not affect the invariant -1 and -2 positions. Although positions -3 an d -5 to -12 are part of the splicing consensus sequence and variants involving t hese positions sometimes affect splicing, pathogenic splicing variants have not been reported in Noonan spectrum disorders. Therefore, this variant is likely to be benign.
Invitae RCV002054682 SCV002422922 likely benign RASopathy 2023-11-27 criteria provided, single submitter clinical testing

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