Submissions for variant NM_001005361.3(DNM2):c.2592C>T (p.Ala864=)

gnomAD frequency: 0.00011  dbSNP: rs373161548

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083309	SCV000253329	likely benign	Charcot-Marie-Tooth disease dominant intermediate B	2025-01-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000200560	SCV000512830	likely benign	not provided	2018-09-19	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000200560	SCV001143775	benign	not provided	2018-10-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000200560	SCV001151637	uncertain significance	not provided	2016-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453722	SCV002739384	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000200560	SCV005879285	likely benign	not provided	2024-05-14	criteria provided, single submitter	clinical testing