ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11600T>A (p.Val3867Asp)

dbSNP: rs2544614874
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003223919 SCV003919427 uncertain significance not provided 2021-03-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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