ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu) (rs398123604)

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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 RCV000079614 SCV000111497 benign not specified 2013-10-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079614 SCV000205830 benign not specified 2013-10-11 criteria provided, single submitter clinical testing Glu34Leu (c.100_101delinsTT) in exon 1 of DNAH11: This variant is not expected t o have clinical significance because it has been identified in ~45% (3331/7390) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2285943 & dbSNP rs2285 944).
Invitae RCV000202416 SCV000257478 benign Primary ciliary dyskinesia 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079614 SCV000307412 benign not specified criteria provided, single submitter clinical testing

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