Submissions for variant NM_006096.4(NDRG1):c.1077_1106dup (p.340TRSRSHTSEG[4])

dbSNP: rs1554747463

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000538119	SCV000657836	likely benign	Charcot-Marie-Tooth disease type 4	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001527868	SCV001739011	likely benign	not provided	2021-04-20	criteria provided, single submitter	clinical testing	In-frame duplication of 10 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002420530	SCV002726515	likely benign	Inborn genetic diseases	2019-11-15	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.
Natera, Inc.	RCV001829601	SCV002085012	likely benign	Charcot-Marie-Tooth disease type 4D	2021-07-29	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004755975	SCV005358170	likely benign	NDRG1-related disorder	2024-08-05	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).