ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4377+15A>G (rs57208694)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079619 SCV000111502 benign not specified 2013-05-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079619 SCV000197617 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 4377+15A>G in intron 24 of DNAH11: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence. It has been identified in 47.2% (3899/8262) of European American chromos omes from a broad population by the NHLBI Exome Sequencing Project (http://evs.g s.washington.edu/EVS; dbSNP rs57208694).
PreventionGenetics,PreventionGenetics RCV000079619 SCV000307511 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355786 SCV000468094 benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing

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