ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1403G>A (p.Arg468His) (rs138382758)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196650 SCV000251700 likely benign not specified 2017-12-01 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 RCV001086652 SCV000290025 benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000487518 SCV000331380 uncertain significance not provided 2015-11-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312138 SCV000347988 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487518 SCV000574747 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000487518 SCV000841605 benign not provided 2018-05-17 criteria provided, single submitter clinical testing
Mendelics RCV000002372 SCV001135183 uncertain significance Charcot-Marie-Tooth disease, type 2A2A 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000196650 SCV001160434 likely benign not specified 2019-03-02 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172693 SCV001335759 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
OMIM RCV000002372 SCV000022530 pathogenic Charcot-Marie-Tooth disease, type 2A2A 2010-04-01 no assertion criteria provided literature only

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