ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter)

dbSNP: rs1057515422
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine RCV000408651 SCV000262690 pathogenic Aortic valve disease 1 2015-01-01 no assertion criteria provided research

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