ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4475del (p.Leu1492fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797303 SCV005415842 likely pathogenic Marfan syndrome criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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