Submissions for variant NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=)

gnomAD frequency: 0.00357  dbSNP: rs150900416

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176181	SCV000227796	benign	not specified	2015-04-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000176181	SCV000512897	benign	not specified	2016-03-03	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083137	SCV000559767	benign	Charcot-Marie-Tooth disease axonal type 2O	2025-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711535	SCV000841913	benign	not provided	2018-03-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314616	SCV000847485	benign	Inborn genetic diseases	2016-03-17	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.
CeGaT Center for Human Genetics Tuebingen	RCV000711535	SCV004130454	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	DYNC1H1: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV000711535	SCV005294085	benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000711535	SCV005877293	benign	not provided	2024-10-11	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000176181	SCV001921698	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000711535	SCV001968829	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004745254	SCV005363201	benign	DYNC1H1-related disorder	2024-07-26	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).