ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12489dup (p.Arg4164fs)

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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 RCV004797208 SCV005418332 uncertain significance Polycystic kidney disease, adult type criteria provided, single submitter clinical testing PVS1_Moderate+PM2_Supporting+PP4

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