ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1330C>A (p.Arg444=)

dbSNP: rs121913371
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001403626 SCV001605499 likely benign RASopathy 2023-06-18 criteria provided, single submitter clinical testing
GeneDx RCV001713084 SCV001945204 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900380 SCV004709258 likely benign BRAF-related disorder 2023-05-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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