ClinVar Miner

Submissions for variant NM_002880.3(RAF1):c.-339_-338AG[1] (rs527774250)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000339461 SCV000440657 uncertain significance Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399170 SCV000440658 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151724 SCV000200058 likely benign not specified 2011-12-21 criteria provided, single submitter clinical testing -337_-336delAG in 5'UTR of exon 1 of RAF1: This variant has been identified in o ur laboratory in one individual who is reportedly unaffected with the clinical f eatures of the Noonan spectrum as well as five other probands with Noonan spectr um features who have a pathogenic PTPN11 variant. This variant occurs in the non -coding first exon of the gene. No variants in this region of RAF1 have been sho wn to be pathogenic to date. Therefore, this variant is not expected to have cli nical or pathological significance.

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