ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser)

dbSNP: rs1596523677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788558 SCV000927711 likely pathogenic not provided 2018-05-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021183 SCV005640833 likely pathogenic Polycystic kidney disease, adult type 2024-02-07 criteria provided, single submitter clinical testing

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