ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.2624G>A (p.Cys875Tyr) (rs886039038)

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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 RCV000251722 SCV000319764 likely pathogenic Cardiovascular phenotype 2015-05-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting pathogenic classification,Rarity in general population databases (dbSNP, ESP, 1000 Genomes),in silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769646 SCV000901047 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-09-01 criteria provided, single submitter clinical testing

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