ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8909del (p.Gly2970fs)

dbSNP: rs2544737008
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV003985125 SCV004801398 likely pathogenic Polycystic kidney disease, adult type 2024-03-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003985125 SCV005640837 likely pathogenic Polycystic kidney disease, adult type 2024-03-02 criteria provided, single submitter clinical testing

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