Submissions for variant NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala)

gnomAD frequency: 0.00229  dbSNP: rs72657320

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000242652	SCV000111504	benign	not specified	2015-07-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227873	SCV000287005	benign	Primary ciliary dyskinesia	2025-02-03	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000242652	SCV001365793	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Val1477Ala in exon 25 of DNAH11: This variant is not expected to have clinical significance because it has been identified in 6.1% (8/132) of Mexican chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs72657320).
Fulgent Genetics, Fulgent Genetics	RCV002498398	SCV002806635	benign	Primary ciliary dyskinesia 7	2021-09-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV002498398	SCV003799319	benign	Primary ciliary dyskinesia 7	2023-10-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004528285	SCV000307514	likely benign	DNAH11-related disorder	2023-11-29	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).