ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.6049C>G (p.Arg2017Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466838 SCV002761600 uncertain significance Primary ciliary dyskinesia 3 2020-05-04 criteria provided, single submitter clinical testing

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