ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter)

dbSNP: rs770667157
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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 RCV001280900 SCV005417512 pathogenic Polycystic kidney disease, adult type criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PP4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280900 SCV001468246 likely pathogenic Polycystic kidney disease, adult type 2020-02-24 no assertion criteria provided clinical testing

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