ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)

gnomAD frequency: 0.00621  dbSNP: rs142271930
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126754 SCV000170267 benign not specified 2013-11-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000227305 SCV000290027 benign Charcot-Marie-Tooth disease type 2 2025-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000227305 SCV000348003 benign Charcot-Marie-Tooth disease type 2 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000711273 SCV000604223 benign not provided 2023-11-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711273 SCV000841609 benign not provided 2018-03-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000126754 SCV000862577 benign not specified 2018-08-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001101762 SCV001258400 benign Hereditary motor and sensory neuropathy with optic atrophy 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173010 SCV001336085 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711273 SCV001502499 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing MFN2: BS2
Fulgent Genetics, Fulgent Genetics RCV002492476 SCV002798097 benign Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A 2022-02-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711273 SCV005259865 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000126754 SCV001921246 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000126754 SCV001958909 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000711273 SCV001974512 likely benign not provided no assertion criteria provided clinical testing

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