Submissions for variant NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=)

gnomAD frequency: 0.00449  dbSNP: rs72657379

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000222973	SCV000269006	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Thr3145Thr in exon 57 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 0.7% (62/8276) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs72657379).
Invitae	RCV000226484	SCV000287036	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000222973	SCV000307604	benign	not specified	2016-04-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000226484	SCV000468180	uncertain significance	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002274964	SCV002563938	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	DNAH11: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003615827	SCV004563963	likely benign	Primary ciliary dyskinesia 7	2023-11-01	criteria provided, single submitter	clinical testing