ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5366C>G (p.Ser1789Ter)

dbSNP: rs1377414968
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, Necip Fazıl Sehir Hastanesi RCV000754710 SCV000864244 pathogenic Polycystic kidney disease, adult type 2019-01-17 no assertion criteria provided clinical testing

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