ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.240+18A>G

gnomAD frequency: 0.00017  dbSNP: rs368584855
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157816 SCV000207746 benign not specified 2014-10-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002053906 SCV002373407 likely benign RASopathy 2024-12-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000157816 SCV002556174 benign not specified 2022-06-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498785 SCV002805031 likely benign Cardiofaciocutaneous syndrome 1; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer 2021-07-23 criteria provided, single submitter clinical testing

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