ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.311G>A (p.Cys104Tyr)

dbSNP: rs387907035
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea RCV000755018 SCV000882760 likely pathogenic Charcot-Marie-Tooth disease dominant intermediate E 2019-02-11 no assertion criteria provided research

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