ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.1117_1119del (p.Val373del)

dbSNP: rs120074169
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003332 SCV000023490 pathogenic Congenital dyserythropoietic anemia, type I 2006-06-15 no assertion criteria provided literature only

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