ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11893C>A (p.Arg3965Ser)

dbSNP: rs1381961196
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003442294 SCV004169780 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing Reported with a second variant (phase unknown) in a patient with polycystic kidney disease in published literature (Rossetti et al., 2007); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 17582161)

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