ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.56C>T (p.Ser19Phe)

dbSNP: rs193922218
Minimum review status: Collection method:
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Total submissions: 2
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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 RCV000029756 SCV000052409 likely pathogenic Marfan syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
All of Us Research Program, National Institutes of Health RCV000029756 SCV005426128 uncertain significance Marfan syndrome 2024-05-09 criteria provided, single submitter clinical testing

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