ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.3630G>A (p.Gln1210=) (rs3827657)

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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 RCV000150433 SCV000197615 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Gln1210Gln in exon 18 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 25.3% (958/3782) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs3827657).
PreventionGenetics,PreventionGenetics RCV000150433 SCV000307495 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308821 SCV000468087 benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000308821 SCV001000034 benign Primary ciliary dyskinesia 2020-11-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000150433 SCV001740907 benign not specified no assertion criteria provided clinical testing

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