ClinVar Miner

Submissions for variant GRCh37/hg19 17p11.2(chr17:16601603-20063369)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Laboratory, CHRU Nancy RCV001352635 SCV001547203 pathogenic Potocki-Lupski syndrome 2021-03-15 criteria provided, single submitter clinical testing

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