ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.117C>A (p.Cys39Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796902 SCV005416486 likely pathogenic Polycystic kidney disease, adult type criteria provided, single submitter clinical testing PVS1+PM2_Supporting
Fulgent Genetics, Fulgent Genetics RCV004796902 SCV005640695 pathogenic Polycystic kidney disease, adult type 2024-03-06 criteria provided, single submitter clinical testing

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