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

gnomAD frequency: 0.63800  dbSNP: rs1109806

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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, part of Exact Sciences	RCV000150443	SCV000307579	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000314436	SCV000468153	benign	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000314436	SCV001000039	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657852	SCV001875569	benign	Primary ciliary dyskinesia 7	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001705978	SCV001894176	benign	not provided	2018-11-10	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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000150443	SCV001973040	benign	not specified		no assertion criteria provided	clinical testing