ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.724C>T (p.His242Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences RCV003237405 SCV003936034 likely pathogenic Charcot-Marie-Tooth disease type 2A2 criteria provided, single submitter clinical testing

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