ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1426-9T>C (rs72655983)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214869 SCV000268998 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 1426-9T>C in intron 7 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (86/8132) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs72655983).
Invitae RCV000233997 SCV000286987 benign Primary ciliary dyskinesia 2020-11-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000214869 SCV000307471 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000214869 SCV000341931 benign not specified 2016-05-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000233997 SCV000468051 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing

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