ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.755G>C (p.Arg252Pro)

dbSNP: rs1325951163
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519768 SCV000620218 pathogenic not provided 2023-05-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); 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: 31623504, 32005694, 28650561, 15488754, 15520807, 16439621, 17603483, 24957944, 29493581)
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626860 SCV000747563 likely pathogenic Global developmental delay 2017-01-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813496 SCV002060718 uncertain significance Noonan syndrome and Noonan-related syndrome 2017-07-25 criteria provided, single submitter clinical testing

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