Submissions for variant NM_001277115.2(DNAH11):c.13128C>A (p.Leu4376=)

dbSNP: rs56333627

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155499	SCV000205197	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Leu4376Leu in exon 80 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 32.3% (2682/8308) of European American chromosomes from a broad population by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs56333627).
PreventionGenetics, part of Exact Sciences	RCV000155499	SCV000307459	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000355824	SCV000468237	likely benign	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000355824	SCV001000262	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001706041	SCV001862370	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001657887	SCV001875581	benign	Primary ciliary dyskinesia 7	2021-07-30	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000155499	SCV001744751	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000155499	SCV001971016	benign	not specified		no assertion criteria provided	clinical testing