ClinVar Miner

Submissions for variant NM_002880.3(RAF1):c.125C>T (p.Ala42Val) (rs11549992)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000521407 SCV000616490 likely benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.125C>T (p.Ala42Val) variant in the RAF1 gene is 0.026% (25/66738) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)
Illumina Clinical Services Laboratory,Illumina RCV000398939 SCV000440635 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290750 SCV000440636 uncertain significance Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing

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