ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter) (rs1555450968)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517637 SCV000614553 pathogenic not provided 2016-08-02 criteria provided, single submitter clinical testing
Institute of Human Genetics,Cologne University RCV000509588 SCV000607732 pathogenic Polycystic kidney disease, adult type no assertion criteria provided clinical testing

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