ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His)

dbSNP: rs36221080
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001762939 SCV001988941 uncertain significance not provided 2025-01-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26920127)
Fulgent Genetics, Fulgent Genetics RCV002477929 SCV002792725 likely pathogenic Polycystic kidney disease, adult type 2023-12-20 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV002477929 SCV005418509 uncertain significance Polycystic kidney disease, adult type criteria provided, single submitter clinical testing PM2_Supporting+PS4_Supporting+PP4

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