Submissions for variant NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) (rs41278630)

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000180646	SCV000233125	likely benign	not specified	2014-12-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000180646	SCV000251729	likely benign	not specified	2018-02-19	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	RCV000205710	SCV000260582	benign	Charcot-Marie-Tooth disease, type 2	2019-12-31	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000180646	SCV000312239	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000321170	SCV000347980	likely benign	Hereditary motor and sensory neuropathy with optic atrophy	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina	RCV000205710	SCV000347981	likely benign	Charcot-Marie-Tooth disease, type 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000658493	SCV000780261	uncertain significance	not provided	2019-02-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000986246	SCV001135181	likely benign	Charcot-Marie-Tooth disease, type 2A2A	2019-05-28	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001172690	SCV001335756	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing