ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys)

dbSNP: rs2151698069
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002477881 SCV002801561 likely pathogenic Polycystic kidney disease, adult type 2023-12-30 criteria provided, single submitter clinical testing
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001845003 SCV001876935 likely pathogenic Autosomal dominant polycystic kidney disease 2021-09-01 no assertion criteria provided research

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