ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.-19C>T (rs71645935)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077864 SCV000058304 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000034331 SCV000077235 benign Rasopathy 2012-03-02 criteria provided, single submitter clinical testing The variant is found in NOONAN panel(s).
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000077864 SCV000207625 benign not specified 2015-01-15 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406169 SCV000467007 likely benign Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313557 SCV000467008 likely benign Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370547 SCV000467009 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000077864 SCV000197183 likely benign not specified 2011-06-01 criteria provided, single submitter clinical testing -19C>T in the 5'UTR of BRAF: This variant has been reported in dbSNP in 2.3% (1/ 44) Hispanic chromosomes and 4.2% (1/24) Black chromosomes (rs71645935). This va riant is located in the 5'UTR and variants in regulatory regions could have an e ffect on transcriptional or translational efficiency. However, no variants in th is region of BRAF have been found to be pathogenic in individuals with Noonan sp ectrum disorders.Therefore, this variant is not expected to have clinical signif icance.
PreventionGenetics RCV000077864 SCV000310103 benign not specified criteria provided, single submitter clinical testing

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