Submissions for variant NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys)

gnomAD frequency: 0.00030  dbSNP: rs141525226

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725688	SCV000338612	uncertain significance	not provided	2018-08-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000725688	SCV000589894	likely benign	not provided	2020-01-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26100331, 23891399)
Genetic Services Laboratory, University of Chicago	RCV000374519	SCV000594421	likely benign	not specified	2016-08-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085654	SCV001004721	likely benign	Charcot-Marie-Tooth disease axonal type 2O	2025-01-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001085654	SCV001266313	likely benign	Charcot-Marie-Tooth disease axonal type 2O	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001114649	SCV001272551	benign	Autosomal dominant cerebellar ataxia	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Ambry Genetics	RCV002374466	SCV002673377	benign	Inborn genetic diseases	2020-01-09	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	RCV000725688	SCV004135162	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	DYNC1H1: PP2, BS1