Submissions for variant NM_014874.3(MFN2):c.1641C>T (p.Leu547=) (rs140924661)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126753	SCV000170266	benign	not specified	2014-04-16	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	RCV001079621	SCV000252829	benign	Charcot-Marie-Tooth disease, type 2	2020-11-14	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000584855	SCV000334704	uncertain significance	not provided	2015-09-23	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000584855	SCV000692605	likely benign	not provided	2021-01-01	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001172691	SCV001335757	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Clinical Genetics,Academic Medical Center	RCV000126753	SCV001922375	benign	not specified		no assertion criteria provided	clinical testing