ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7898G>C (p.Cys2633Ser) (rs193922240)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029785 SCV000052439 likely pathogenic Marfan syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.

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