ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1360C>T (p.Arg454Cys)

gnomAD frequency: 0.00002  dbSNP: rs765408067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001249154 SCV001422418 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485985 SCV002803939 uncertain significance Polycystic kidney disease, adult type 2022-04-13 criteria provided, single submitter clinical testing

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