ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) (rs1567216536)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gharavi Laboratory,Columbia University RCV000681676 SCV000809123 likely pathogenic not provided 2018-09-16 no assertion criteria provided research
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV001029933 SCV001192729 likely pathogenic Polycystic kidney disease, adult type 2019-11-06 no assertion criteria provided clinical testing

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