ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp) (rs863224935)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000197170 SCV000255488 likely pathogenic Loeys-Dietz syndrome 2 2013-04-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253606 SCV000318668 pathogenic Cardiovascular phenotype 2015-06-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Deficient protein function in appropriate functional assay(s),Good segregation with disease (lod 1.5-3 = 5-9 meioses),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Other data supporting pathogenic classification

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