ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.394T>C (p.Trp132Arg) (rs1569215263)

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Total submissions: 2
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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 RCV000755048 SCV000882780 pathogenic X-linked hereditary motor and sensory neuropathy 2019-02-11 no assertion criteria provided research
Inherited Neuropathy Consortium RCV000789878 SCV000929263 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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