ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.4367G>A (p.Cys1456Tyr) (rs397515805)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035196 SCV000058838 likely pathogenic Marfan syndrome 2009-02-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621776 SCV000738803 likely pathogenic Cardiovascular phenotype 2016-12-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Well-characterized mutation at same position,Structural Evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species

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