ClinVar Miner

Submissions for variant GRCh37/hg19 17p11.2(chr17:16664739-20370783)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003236713 SCV003935212 pathogenic Potocki-Lupski syndrome 2023-05-26 criteria provided, single submitter clinical testing

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