ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9033C>G (p.Tyr3011Ter)

dbSNP: rs1408935894
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288286 SCV001475276 likely pathogenic not provided 2019-10-10 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. Not found in the total gnomAD dataset, and the data is high quality.

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