Submissions for variant NM_006096.4(NDRG1):c.879G>A (p.Pro293=)

gnomAD frequency: 0.00458  dbSNP: rs2233340

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000476686	SCV000562109	benign	Charcot-Marie-Tooth disease type 4	2025-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001696812	SCV000719367	likely benign	not provided	2020-11-06	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001174347	SCV001337483	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001286100	SCV001472625	benign	Charcot-Marie-Tooth disease type 4D	2023-10-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374869	SCV002685161	likely benign	Inborn genetic diseases	2019-07-11	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.
Breakthrough Genomics, Breakthrough Genomics	RCV001696812	SCV005220000	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001286100	SCV002085031	likely benign	Charcot-Marie-Tooth disease type 4D	2019-12-13	no assertion criteria provided	clinical testing