ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter) (rs863224968)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201055 SCV000255677 pathogenic Charcot-Marie-Tooth disease, type 2A2A 2015-08-20 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092581 SCV001249142 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing

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