ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter)

dbSNP: rs1485307916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095549 SCV001251179 pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PVS1, PM2, PP4
Molecular Biology Laboratory, Fundació Puigvert RCV001095549 SCV001425190 pathogenic Polycystic kidney disease, adult type 2020-02-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV001095549 SCV002793331 pathogenic Polycystic kidney disease, adult type 2022-03-01 criteria provided, single submitter clinical testing

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