ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg)

dbSNP: rs2151824152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001801289 SCV002047498 likely pathogenic Polycystic kidney disease, adult type 2021-08-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001801289 SCV002799493 likely pathogenic Polycystic kidney disease, adult type 2022-05-04 criteria provided, single submitter clinical testing

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