ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala)

gnomAD frequency: 0.00002  dbSNP: rs1114167365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV000490643 SCV001425162 other Polycystic kidney disease, adult type 2020-02-01 criteria provided, single submitter research
Institute of Human Genetics, Cologne University RCV000490643 SCV000538203 uncertain significance Polycystic kidney disease, adult type no assertion criteria provided clinical testing

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