ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.794del (p.His265fs) (rs1567092071)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV000770956 SCV000854418 pathogenic Aortic valve disorder 2018-11-14 no assertion criteria provided research
OMIM RCV000787046 SCV000925962 pathogenic Aortic valve disease 2 2019-07-08 no assertion criteria provided literature only

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