ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.919A>G (p.Lys307Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Uniklinik RWTH Aachen RCV001201342 SCV001372229 uncertain significance Charcot-Marie-Tooth disease, type 2A2A 2020-05-19 criteria provided, single submitter clinical testing

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