ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His) (rs34879202)

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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 RCV000155493 SCV000205191 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Arg3580His in exon 66 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 1.5% (122/8230) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs34879202).
Invitae RCV000228888 SCV000286971 benign Primary ciliary dyskinesia 2019-12-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000155493 SCV000307421 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155493 SCV000708993 benign not specified 2017-06-01 criteria provided, single submitter clinical testing

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