Submissions for variant NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly)

gnomAD frequency: 0.00163  dbSNP: rs121908854

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000378006	SCV000468163	uncertain significance	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000378006	SCV000561941	likely benign	Primary ciliary dyskinesia	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001731634	SCV001982289	uncertain significance	not provided	2022-09-07	criteria provided, single submitter	clinical testing	Identified in the heterozygous state in two individuals with suspected primary ciliary dyskinesia, but a second DNAH11 variant was not identified and one of these individuals was also found to have variants in another gene (Andjelkovic et al., 2018; Olm et al., 2019); Identified in a family with recurrent congenital heart disease; however, zygosity was not specified and a second variant in the DNAH11 gene was not identified (Izarzugaza et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30300419, 31213628, 34768622, 32859249)
Genetics and Molecular Pathology, SA Pathology	RCV002466491	SCV002761420	uncertain significance	Primary ciliary dyskinesia 7	2020-01-06	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV002466491	SCV003831710	uncertain significance	Primary ciliary dyskinesia 7	2020-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001731634	SCV004163805	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	DNAH11: BP4