ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1574T>G (p.Leu525Arg)

dbSNP: rs869025340
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413915 SCV000490989 pathogenic not provided 2024-05-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34906519, 35982159, 33057194)
Department Of Pathology & Laboratory Medicine, University Of Pennsylvania RCV003448979 SCV004176810 likely pathogenic Malignant lymphoma, large B-cell, diffuse 2023-12-04 no assertion criteria provided clinical testing Post-initial therapy specimen.

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