ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter)

dbSNP: rs755084885
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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 RCV001095553 SCV001251184 pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PVS1, PM2, PP4, PP5
Athena Diagnostics Inc RCV001289046 SCV001476600 pathogenic not provided 2019-09-20 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 patient with expected phenotype for this gene, and not found in general population data.
Fulgent Genetics, Fulgent Genetics RCV001095553 SCV002802227 pathogenic Polycystic kidney disease, adult type 2021-10-15 criteria provided, single submitter clinical testing

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