ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10221_10222del (p.Cys3408fs) (rs886042735)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000404071 SCV000336274 pathogenic not provided 2017-10-02 criteria provided, single submitter clinical testing
Centre for Genomic and Experimental Medicine,University of Edinburgh RCV001268927 SCV001334264 pathogenic Primary ciliary dyskinesia 2020-04-01 criteria provided, single submitter research

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