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

gnomAD frequency: 0.78845  dbSNP: rs3827657

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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, part of Exact Sciences	RCV000150433	SCV000307495	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000308821	SCV000468087	benign	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000308821	SCV001000034	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001705974	SCV001865475	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657849	SCV001875562	benign	Primary ciliary dyskinesia 7	2021-07-30	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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000150433	SCV001963699	benign	not specified		no assertion criteria provided	clinical testing