ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.2127+3A>G (rs371976102)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000157707 SCV000616454 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.2127+3A>G variant in the BRAF gene is 0.151% (23/10398) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000034333 SCV000058310 likely benign not specified 2015-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000034333 SCV000167215 benign not specified 2014-05-14 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.
Invitae RCV000590004 SCV000260141 benign not provided 2018-11-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590004 SCV000698336 benign not provided 2016-02-29 criteria provided, single submitter clinical testing

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