ClinVar Miner

Submissions for variant GRCh37/hg19 17p12(chr17:14096089-15492591)x3

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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, University of Leipzig Medical Center RCV001801221 SCV002047433 pathogenic Charcot-Marie-Tooth disease, type IA 2021-11-25 criteria provided, single submitter clinical testing

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