ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1694+14G>A (rs184144181)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037926 SCV000061590 likely benign not specified 2012-08-16 criteria provided, single submitter clinical testing c.1694+14G>A in Intron 13 of BRAF: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 2/7020 European American chromosomes from a broad popula tion by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;).
GeneDx RCV000037926 SCV000207741 benign not specified 2014-05-29 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.
Illumina Clinical Services Laboratory,Illumina RCV000321913 SCV000466971 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357886 SCV000466972 likely benign Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263036 SCV000466973 likely benign Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing

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