Submissions for variant NM_001277115.2(DNAH11):c.1956C>T (p.Phe652=)

gnomAD frequency: 0.99232  dbSNP: rs6963535

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150428	SCV000197609	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Phe652Phe in exon 11 of DNAH11: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1.3% (108/8220) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs6963535).
PreventionGenetics, part of Exact Sciences	RCV000150428	SCV000307477	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000381934	SCV000468057	benign	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000381934	SCV001000030	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657846	SCV001875556	benign	Primary ciliary dyskinesia 7	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001711416	SCV001940987	benign	not provided	2018-12-19	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000150428	SCV001744017	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000150428	SCV001970344	benign	not specified		no assertion criteria provided	clinical testing