ClinVar Miner

Submissions for variant NM_001270974.2(HYDIN):c.2051T>C (p.Val684Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989196 SCV004805733 uncertain significance Primary ciliary dyskinesia 5 2024-03-29 criteria provided, single submitter clinical testing

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