Submissions for variant NM_014874.3(MFN2):c.756C>T (p.Asn252=) (rs137960129)

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000416120	SCV000232738	uncertain significance	not provided	2015-03-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000197692	SCV000251698	benign	not specified	2014-07-28	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	RCV001088344	SCV000290031	likely benign	Charcot-Marie-Tooth disease, type 2	2020-11-22	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000416120	SCV000493165	likely benign	not provided	2018-11-01	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001099688	SCV001256161	uncertain significance	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina	RCV001088344	SCV001256162	uncertain significance	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001172695	SCV001335761	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing