ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.2235A>G (p.Leu745=) (rs56046546)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000033346 SCV000616453 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.2235A>G (p.Leu745=) variant in the BRAF gene is 1.11% (113/8654) of East Asian 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)
GeneDx RCV000033346 SCV000057251 poly Rasopathy criteria provided, single submitter clinical testing Converted during submission to Benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037947 SCV000058311 benign not specified 2015-04-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037947 SCV000061612 benign not specified 2015-03-20 criteria provided, single submitter clinical testing p.Leu745Leu in exon 18 of BRAF: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, not located within t he splice consensus sequence, and has been identified in 1.3% (113/8654) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs56046546).
Illumina Clinical Services Laboratory,Illumina RCV000396404 SCV000466947 likely benign Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313070 SCV000466948 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367755 SCV000466949 likely benign Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000858147 SCV000563668 benign not provided 2019-02-19 criteria provided, single submitter clinical testing

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