ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7833C>G (p.Tyr2611Ter) (rs138871063)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992605 SCV001145010 pathogenic not provided 2019-06-13 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity.
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095581 SCV001251215 pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PVS1, PM2, PP4

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