ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.913T>C (p.Trp305Arg)

dbSNP: rs2151823617
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752792 SCV001997748 uncertain significance not provided 2023-12-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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