ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3257G>A (p.Cys1086Tyr)

dbSNP: rs137854484
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000017929 SCV000038208 pathogenic Neonatal Marfan syndrome 2007-04-15 no assertion criteria provided literature only

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