ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Swedish Neurofibromatosis Center,Swedish Medical Center RCV001090170 SCV001244197 likely pathogenic Polycystic kidney disease, adult type 2020-04-17 criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001090170 SCV001251214 pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PM2, PP3, PP4

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