ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1189G>T (p.Glu397Ter)

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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 RCV004787172 SCV005397899 likely pathogenic Polycystic kidney disease, adult type criteria provided, single submitter clinical testing PM2_Supporting+PVS1
Fulgent Genetics, Fulgent Genetics RCV004787172 SCV005640572 pathogenic Polycystic kidney disease, adult type 2024-02-23 criteria provided, single submitter clinical testing

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