ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.3963A>G (p.Thr1321=) (rs140648)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621176 SCV000739790 likely pathogenic Cardiovascular phenotype 2015-09-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Deficient protein function in appropriate functional assay(s),Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Center for Medical Genetics Ghent,University of Ghent RCV000663678 SCV000787009 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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