ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) (rs886039177)

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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 RCV000244920 SCV000320481 uncertain significance Cardiovascular phenotype 2015-11-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf RCV000766262 SCV000897682 likely pathogenic Thoracic aortic aneurysm and aortic dissection 2018-11-20 criteria provided, single submitter clinical testing

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