ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.1239T>A (p.Tyr413Ter)

dbSNP: rs1336651679
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001839414 SCV001190237 pathogenic Anemia, congenital dyserythropoietic, type 1a 2019-05-14 no assertion criteria provided clinical testing

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