ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7579_7580del (p.Val2527fs)

dbSNP: rs2151772170
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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 RCV005361691 SCV005912239 pathogenic Polycystic kidney disease, adult type 2019-11-06 criteria provided, single submitter clinical testing
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844968 SCV001876899 pathogenic Autosomal dominant polycystic kidney disease 2021-09-01 no assertion criteria provided research

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