Submissions for variant NM_014874.3(MFN2):c.1827C>T (p.Ser609=) (rs138724074)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000198656	SCV000251704	benign	not specified	2014-12-19	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.
Invitae	RCV000206860	SCV000261160	benign	Charcot-Marie-Tooth disease, type 2	2019-12-31	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000269301	SCV000347999	uncertain significance	Hereditary motor and sensory neuropathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000206860	SCV000348000	uncertain significance	Charcot-Marie-Tooth disease, type 2	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000658494	SCV000780262	likely benign	not provided	2018-03-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000658494	SCV001143628	benign	not provided	2019-03-08	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173007	SCV001336082	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV001285746	SCV001472226	likely benign	none provided	2020-04-27	criteria provided, single submitter	clinical testing