ClinVar Miner

Submissions for variant GRCh38/hg38 2p16.3(chr2:50851255-50995129)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000054018 SCV000081381 pathogenic See cases 2011-08-12 criteria provided, single submitter clinical testing

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