Submissions for variant NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=)

gnomAD frequency: 0.00046  dbSNP: rs116089522

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000500200	SCV000594414	likely benign	not specified	2015-10-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000537148	SCV000651645	benign	Charcot-Marie-Tooth disease axonal type 2O	2024-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001722423	SCV000722740	benign	not provided	2020-12-17	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172864	SCV001335937	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002341184	SCV002635441	benign	Inborn genetic diseases	2019-08-08	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.
PreventionGenetics, part of Exact Sciences	RCV003900042	SCV004711226	likely benign	DYNC1H1-related disorder	2019-06-18	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).