ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) (rs869025494)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208487 SCV000264131 likely pathogenic Thoracic aortic aneurysm and aortic dissection 2015-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617584 SCV000739485 pathogenic Cardiovascular phenotype 2017-05-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Rarity in general population databases (dbsnp, esp, 1000 genomes)

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