Submissions for variant NM_001277115.2(DNAH11):c.12509C>T (p.Thr4170Ile)

dbSNP: rs12537531

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155497	SCV000205195	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Thr4170Ile in exon 77 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 41.4% (3433/8302) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs12537531).
PreventionGenetics, part of Exact Sciences	RCV000155497	SCV000307450	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000322637	SCV000468225	likely benign	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000322637	SCV001000046	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001706040	SCV001867372	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657886	SCV001875580	benign	Primary ciliary dyskinesia 7	2021-07-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001706040	SCV005224664	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000155497	SCV001743572	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000155497	SCV001967682	benign	not specified		no assertion criteria provided	clinical testing