ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.-212T>C

gnomAD frequency: 0.53102  dbSNP: rs2180183
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000332649 SCV000347954 benign Hereditary motor and sensory neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370987 SCV000347955 benign Charcot-Marie-Tooth disease type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387990 SCV000482956 benign Ehlers-Danlos syndrome, kyphoscoliotic type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001097793 SCV001254107 benign Hereditary motor and sensory neuropathy with optic atrophy 2018-01-13 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.
GeneDx RCV001675774 SCV001893366 benign not provided 2018-06-29 criteria provided, single submitter clinical testing

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