ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.173dup (p.Pro58_Glu59insTer)

dbSNP: rs758657008
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004916 SCV000025092 pathogenic Kostmann syndrome 2008-05-15 no assertion criteria provided literature only

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