ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del)

dbSNP: rs2151806438
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002225903 SCV002504111 likely pathogenic not provided 2022-02-15 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; Not observed in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23300259)
Fulgent Genetics, Fulgent Genetics RCV002488455 SCV002788318 likely pathogenic Polycystic kidney disease, adult type 2021-10-22 criteria provided, single submitter clinical testing
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844979 SCV001876911 uncertain significance Autosomal dominant polycystic kidney disease 2021-09-01 no assertion criteria provided research

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