Submissions for variant NM_001369.3(DNAH5):c.9714C>T (p.Ala3238=)

gnomAD frequency: 0.00004  dbSNP: rs375561333

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000863117	SCV001003719	benign	Primary ciliary dyskinesia	2025-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000863117	SCV002692670	benign	Primary ciliary dyskinesia	2021-11-08	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc.	RCV000863117	SCV001452458	uncertain significance	Primary ciliary dyskinesia	2019-11-11	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003908187	SCV004727334	likely benign	DNAH5-related disorder	2019-08-09	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).