ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.*1640dup

dbSNP: rs35943162
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000304868 SCV000348074 uncertain significance Charcot-Marie-Tooth disease type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000364242 SCV000348075 uncertain significance Hereditary motor and sensory neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691136 SCV005186467 uncertain significance not provided criteria provided, single submitter not provided

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