ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs)

dbSNP: rs2151820943
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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 RCV001535949 SCV001752610 pathogenic Polycystic kidney disease, adult type 2021-06-30 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001535949 SCV005415710 likely pathogenic Polycystic kidney disease, adult type criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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