ClinVar Miner

Submissions for variant NM_001270974.2(HYDIN):c.7450C>T (p.Pro2484Ser)

gnomAD frequency: 0.00096  dbSNP: rs201875517
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000754885 SCV000778482 uncertain significance Primary ciliary dyskinesia 5 2018-05-28 no assertion criteria provided research

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