ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.101A>T (p.Glu34Val) (rs2285944)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079615 SCV000111498 benign not specified 2013-10-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403909 SCV000468029 benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079615 SCV000711295 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Glu34Val in exon 1 of DNAH11: This variant is not expected to have clinical sign ificance because it has been identified in 45.1% (3331/7390) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs2285944).

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