ClinVar Miner

Submissions for variant NM_001102416.3(KNG1):c.1216dup (p.His406fs) (rs797044430)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000605 SCV000020755 affects High molecular weight kininogen deficiency 2007-06-01 no assertion criteria provided literature only

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