ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7535T>G (p.Leu2512Arg)

dbSNP: rs2151772458
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002086737 SCV002320743 likely pathogenic Polycystic kidney disease, adult type 2022-02-25 criteria provided, single submitter clinical testing

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