ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7776C>T (p.His2592=) (rs1109806)

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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 RCV000150443 SCV000197629 benign not specified 2013-02-21 criteria provided, single submitter clinical testing His2592His in exon 47 of DNAH11: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 38.9% (1692/4352) of African American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1109806).
PreventionGenetics,PreventionGenetics RCV000150443 SCV000307579 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314436 SCV000468153 benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000314436 SCV001000039 benign Primary ciliary dyskinesia 2020-11-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000150443 SCV001744353 benign not specified no assertion criteria provided clinical testing

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