ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.851A>G (p.Glu284Gly)

dbSNP: rs1566999610
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf RCV000766261 SCV000897681 likely pathogenic Familial thoracic aortic aneurysm and aortic dissection 2018-11-20 criteria provided, single submitter clinical testing

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