ClinVar Miner

Submissions for variant NM_002880.3(RAF1):c.1669-13T>C (rs147475396)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000362275 SCV000440623 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267263 SCV000440624 likely benign Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037679 SCV000061341 benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.1669-13T>C in Intron 15 of RAF1: This variant is not expected to have clinical significance because it has been identified in 2.8% (103/3738) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs147475396).
PreventionGenetics RCV000037679 SCV000309257 benign not specified criteria provided, single submitter clinical testing

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