ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.*1794_*1796del

gnomAD frequency: 0.00015  dbSNP: rs540280019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000333321 SCV000348080 uncertain significance Hereditary motor and sensory neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387869 SCV000348081 uncertain significance Charcot-Marie-Tooth disease type 2 2016-06-14 criteria provided, single submitter clinical testing

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