ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9914_9915del (p.Ser3305fs)

dbSNP: rs1567169638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV003319399 SCV005184234 pathogenic Polycystic kidney disease, adult type 2024-07-19 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PS4_Supporting+PP4
Gharavi Laboratory, Columbia University RCV000681782 SCV000809245 pathogenic not provided 2018-09-16 no assertion criteria provided research
Genomics And Bioinformatics Analysis Resource, Columbia University RCV003319399 SCV004024118 pathogenic Polycystic kidney disease, adult type no assertion criteria provided research

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