ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu)

dbSNP: rs1567218284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756499 SCV000884330 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493376 SCV002784237 uncertain significance Polycystic kidney disease, adult type 2022-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000756499 SCV004170380 uncertain significance not provided 2023-04-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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