ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6416G>A (p.Arg2139Lys) (rs140048925)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233416 SCV000287018 benign Primary ciliary dyskinesia 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000249913 SCV000307553 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000233416 SCV000468129 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000249913 SCV000517087 likely benign not specified 2015-05-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514267 SCV000610033 likely benign not provided 2017-04-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000249913 SCV000966295 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Arg2139Lys in exon 38 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (46/4016) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs140048925).

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