ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.2026C>T (p.Gln676Ter)

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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 RCV004764710 SCV005374337 likely pathogenic Primary ciliary dyskinesia 15 2024-09-22 criteria provided, single submitter clinical testing

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