Submissions for variant NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=)

gnomAD frequency: 0.00010  dbSNP: rs145487328

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193352	SCV000247221	uncertain significance	not specified	2014-08-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001705080	SCV000528992	benign	not provided	2019-09-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000525360	SCV000651667	benign	Charcot-Marie-Tooth disease axonal type 2O	2025-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317680	SCV000849479	likely benign	Inborn genetic diseases	2017-04-14	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.
CeGaT Center for Human Genetics Tuebingen	RCV001705080	SCV004135169	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	DYNC1H1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003947603	SCV004757162	likely benign	DYNC1H1-related disorder	2022-09-27	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).