ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2454A>G (p.Ala818=) (rs4615458)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079616 SCV000111499 benign not specified 2013-04-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079616 SCV000197612 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala818Ala in exon 14 of DNAH11: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 48.2% (2040/4230) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs4615458).
PreventionGenetics,PreventionGenetics RCV000079616 SCV000307482 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302131 SCV000468070 benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000302131 SCV001000031 benign Primary ciliary dyskinesia 2020-11-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000079616 SCV001742607 benign not specified no assertion criteria provided clinical testing

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