ClinVar Miner

Submissions for variant GRCh37/hg19 2p23.3(chr2:26860458-27346266)x1

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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 RCV001801216 SCV002047428 uncertain significance Ritscher-Schinzel syndrome 4 2021-11-11 criteria provided, single submitter clinical testing

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