ClinVar Miner

Submissions for variant NM_001039396.2(MPEG1):c.973C>T (p.Pro325Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pulmonary Medicine, Postgraduate Institute of Medical Education and Research RCV003234813 SCV003932700 pathogenic Primary ciliary dyskinesia 3 no assertion criteria provided clinical testing

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