ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4501-7A>T (rs62447794)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203881 SCV000261498 benign Primary ciliary dyskinesia 2020-11-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000251895 SCV000307519 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000203881 SCV000468098 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000251895 SCV000711298 likely benign not specified 2017-07-31 criteria provided, single submitter clinical testing c.4501-7A>T in intron 25 of DNAH11: This variant is not expected to have clinica l significance because it has been identified in 0.8% (885/116178) of European c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org; dbSNP rs62447794).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762446 SCV000892768 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000762446 SCV001797947 likely benign not provided no assertion criteria provided clinical testing

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