Submissions for variant NM_001277115.2(DNAH11):c.3384C>T (p.Ser1128=)

gnomAD frequency: 0.00235  dbSNP: rs79955190

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000205811	SCV000262503	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000244962	SCV000307492	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000205811	SCV000468082	uncertain significance	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000244962	SCV000711297	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Ser1128Ser in exon 17 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 0.6% (24/3712) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs79955190).
CeGaT Center for Human Genetics Tuebingen	RCV003437007	SCV004163785	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	DNAH11: BP4, BP7