ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7428C>A (p.Cys2476Ter)

dbSNP: rs1453883641
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000505585 SCV005919613 pathogenic Polycystic kidney disease, adult type 2022-10-07 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000505585 SCV000599836 pathogenic Polycystic kidney disease, adult type 2017-04-20 no assertion criteria provided clinical testing

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