ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3543T>A (p.Tyr1181Ter)

dbSNP: rs1057516206
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003409563 SCV004142896 pathogenic not provided 2023-10-01 criteria provided, single submitter clinical testing PKD1: PVS1, PM2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000408798 SCV000484950 pathogenic Polycystic kidney disease, adult type no assertion criteria provided clinical testing

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