ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.226CTG[2] (p.Leu78del)

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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,Klinikum rechts der Isar RCV001254082 SCV001429999 likely pathogenic Charcot-Marie-Tooth disease, dominant intermediate E 2020-03-06 criteria provided, single submitter clinical testing

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