ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10516del (p.Glu3506fs)

dbSNP: rs2151710519
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001535893 SCV001752526 pathogenic Polycystic kidney disease, adult type 2021-06-30 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001535893 SCV005184217 pathogenic Polycystic kidney disease, adult type 2024-07-19 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PP4

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