Submissions for variant NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=)

dbSNP: rs114906811

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000444011	SCV000516663	benign	not specified	2016-03-28	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	RCV001086804	SCV000559811	benign	Charcot-Marie-Tooth disease axonal type 2O	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313042	SCV000847357	benign	Inborn genetic diseases	2016-07-26	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.
Athena Diagnostics	RCV000456510	SCV001143804	benign	not provided	2018-09-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000444011	SCV002069403	benign	not specified	2019-06-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000456510	SCV003917347	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	DYNC1H1: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV000456510	SCV005294119	benign	not provided		criteria provided, single submitter	not provided