ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.1315C>T (p.Gln439Ter)

dbSNP: rs387907091
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000024064 SCV004808201 uncertain significance Primary ciliary dyskinesia 15 2024-03-29 criteria provided, single submitter clinical testing
OMIM RCV000024064 SCV000045355 pathogenic Primary ciliary dyskinesia 15 2011-01-01 no assertion criteria provided literature only

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