ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.11437C>T (p.Arg3813Trp) (rs140948493)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000221456 SCV000271686 uncertain significance not specified 2015-02-10 criteria provided, single submitter clinical testing The p.Arg3813Trp variant in DNAH5 has been previously reported in 1 compound het erozygous child with primary ciliary dyskinesia (PCD) (Kim 2014). This variant h as also been identified in 0.24% (159/66720) of Non-Finnish European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSN P rs397515393). Computational prediction tools and conservation analysis sugges t that this variant may impact the protein, though this information is not predi ctive enough to determine pathogenicity. In summary, the clinical significance o f the p.Arg3813Trp variant is uncertain.
Invitae RCV000226887 SCV000287056 likely benign Primary ciliary dyskinesia 2020-12-04 criteria provided, single submitter clinical testing
Counsyl RCV000667684 SCV000792172 uncertain significance Ciliary dyskinesia, primary, 3 2017-06-19 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000667684 SCV001652840 uncertain significance Ciliary dyskinesia, primary, 3 2021-05-18 criteria provided, single submitter clinical testing

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