ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1992+16G>C (rs3789806)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033340 SCV000057245 poly Rasopathy criteria provided, single submitter clinical testing Converted during submission to Benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077866 SCV000058309 benign not specified 2015-05-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000077866 SCV000310113 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000077866 SCV000538428 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 4109/13006=31.59%
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000077866 SCV000207629 benign not specified 2015-01-15 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV000509409 SCV000607338 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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