Submissions for variant NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=)

gnomAD frequency: 0.00078  dbSNP: rs34013442

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000711537	SCV000723141	benign	not provided	2020-03-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082562	SCV000771451	benign	Charcot-Marie-Tooth disease axonal type 2O	2025-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711537	SCV000841915	benign	not provided	2017-09-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315921	SCV000847518	likely benign	Inborn genetic diseases	2016-08-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000711537	SCV001473139	likely benign	not provided	2019-07-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003980160	SCV004789025	likely benign	DYNC1H1-related disorder	2024-01-05	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).