ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.381dup (p.Glu128fs)

dbSNP: rs397515357
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004976 SCV000025152 pathogenic Combined immunodeficiency due to STIM1 deficiency 2009-05-07 no assertion criteria provided literature only

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