ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8203del (p.Glu2735fs)

dbSNP: rs193922241
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029788 SCV000052442 likely pathogenic Marfan syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.

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