ClinVar Miner

Submissions for variant NM_018972.2(GDAP1):c.[347T>C];[62delA]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000196703 SCV000255376 pathogenic Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease, recessive intermediate A 2014-07-01 criteria provided, single submitter clinical testing

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