Submissions for variant NM_001277115.2(DNAH11):c.1426-9T>C

gnomAD frequency: 0.00607  dbSNP: rs72655983

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000214869	SCV000268998	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	1426-9T>C in intron 7 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (86/8132) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs72655983).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000233997	SCV000286987	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000214869	SCV000307471	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000214869	SCV000341931	benign	not specified	2016-05-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000233997	SCV000468051	uncertain significance	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001731439	SCV001983235	likely benign	not provided	2021-10-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003114375	SCV003800467	benign	Primary ciliary dyskinesia 7	2022-03-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001731439	SCV004163776	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	DNAH11: BS1, BS2