Submissions for variant NM_001277115.2(DNAH11):c.8990G>A (p.Arg2997Gln)

gnomAD frequency: 0.01156  dbSNP: rs35865357

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150447	SCV000197633	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Arg2997Gln in exon 55 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 1.9% (156/8366) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs35865357).
Invitae	RCV000230982	SCV000287029	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000150447	SCV000307595	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000230982	SCV000468171	uncertain significance	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001705980	SCV001863799	benign	not provided	2021-02-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31213628, 24450482, 12142464)
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	RCV001729408	SCV001976656	uncertain significance	Primary ciliary dyskinesia 7	2021-10-01	criteria provided, single submitter	clinical testing	PM1, PP3, PP5, BS1, BS2
CeGaT Center for Human Genetics Tuebingen	RCV001705980	SCV004163809	benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	DNAH11: BP4, BS1, BS2