ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) (rs755496450)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gharavi Laboratory,Columbia University RCV000681776 SCV000809239 pathogenic not provided 2018-09-16 criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000681776 SCV000885932 likely pathogenic not provided 2017-07-27 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000681776 SCV000927606 pathogenic not provided 2018-03-21 criteria provided, single submitter clinical testing
Molecular Biology Laboratory, Fundació Puigvert RCV001281154 SCV001425161 pathogenic Polycystic kidney disease, adult type 2020-02-01 criteria provided, single submitter research

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