ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1286G>T (p.Trp429Leu)

dbSNP: rs1567216472
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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 RCV005357907 SCV005914010 uncertain significance Polycystic kidney disease, adult type 2024-05-13 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000681749 SCV000809206 pathogenic not provided 2018-09-16 no assertion criteria provided research

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