ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.5485-11A>G (rs372860402)

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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 RCV000150479 SCV000197665 uncertain significance not specified 2014-04-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.5485-11A>G va riant in intron 33 of DNAH5 has not been previously reported in individuals with pulmonary disease, but has been identified in 0.035% (3/8598) of European Ameri can chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington. edu/EVS/). This variant is located in the 3' splice region, and computational to ols do not suggest an impact to splicing. However, this information is not predi ctive enough to rule out pathogenicity. Although this data supports that the c.5 485-11A>G variant may be benign, additional studies are needed to fully assess i ts clinical significance.

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