Submissions for variant NM_001372.4(DNAH9):c.11921A>T (p.Lys3974Met)

gnomAD frequency: 0.00292  dbSNP: rs111574749

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002078159	SCV002325720	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494022	SCV002802980	likely benign	Ciliary dyskinesia, primary, 40	2022-05-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002552986	SCV003667126	uncertain significance	Inborn genetic diseases	2021-06-11	criteria provided, single submitter	clinical testing	The c.11921A>T (p.K3974M) alteration is located in exon 63 (coding exon 63) of the DNAH9 gene. This alteration results from a A to T substitution at nucleotide position 11921, causing the lysine (K) at amino acid position 3974 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV002078159	SCV004142045	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	DNAH9: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003948896	SCV004769087	benign	DNAH9-related disorder	2019-11-25	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).