ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1219_1220del (p.Val407fs)

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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 RCV004796471 SCV005418965 pathogenic Wilson disease criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PP4

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