ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8596dup (p.Ile2866fs)

dbSNP: rs1597506547
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989309 SCV001139584 likely pathogenic Marfan syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002275177 SCV002563249 likely pathogenic not provided 2022-10-01 criteria provided, single submitter clinical testing FBN1: PM2, PM6, PVS1:Moderate

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