ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6506C>A (p.Ser2169Ter)

dbSNP: rs373946181
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000030678 SCV000053339 pathogenic Primary ciliary dyskinesia 7 2012-03-01 no assertion criteria provided literature only

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