ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3715G>T (p.Val1239Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796584 SCV005416446 uncertain significance Wilson disease criteria provided, single submitter clinical testing PM2

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