ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2735C>A (p.Pro912His)

dbSNP: rs2139192970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001559289 SCV001781478 uncertain significance Wilson disease 2021-07-14 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001559289 SCV005415854 uncertain significance Wilson disease criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PM3_Supporting

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