ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.6305G>A (p.Arg2102His) (rs876657782)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222710 SCV000271675 uncertain significance not specified 2016-02-24 criteria provided, single submitter clinical testing The p.Arg2102His variant in DNAH5 has not been previously reported in individual s with pulmonary disease or in large population studies. Computational predictio n tools and conservation analysis suggest that the p.Arg2102His variant may impa ct the protein, though this information is not predictive enough to determine pa thogenicity. In summary, the clinical significance of the p.Arg2102His variant i s uncertain.

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