Submissions for variant NM_001277115.2(DNAH11):c.13502A>G (p.Lys4501Arg)

gnomAD frequency: 0.06056  dbSNP: rs77448980

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150461	SCV000197647	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Lys4501Arg in exon 82 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 8.2% (682/8292) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs77448980).
PreventionGenetics, part of Exact Sciences	RCV000150461	SCV000307468	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000385850	SCV000468246	likely benign	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000385850	SCV000561940	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001705986	SCV001900932	benign	not provided	2019-02-18	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001705986	SCV005224672	likely benign	not provided		criteria provided, single submitter	not provided