ClinVar Miner

Submissions for variant NM_002880.3(RAF1):c.321-14T>A (rs3730270)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000680306 SCV000514363 benign not provided 2017-06-26 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 RCV000296767 SCV000440633 likely benign Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349315 SCV000440634 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154805 SCV000204485 benign not specified 2015-03-12 criteria provided, single submitter clinical testing c.321-14T>A in intron 3 of RAF1: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 1.7% (129/7460) of East Asian chromosomes by the Exome Ag gregation Consortium (ExAC,; dbSNP rs3730270).

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