ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9142C>T (p.Leu3048Phe)

gnomAD frequency: 0.00001  dbSNP: rs1253909708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003221541 SCV003918371 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing Not observed at significant frequency 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
Fulgent Genetics, Fulgent Genetics RCV005021861 SCV005640803 uncertain significance Polycystic kidney disease, adult type 2024-04-18 criteria provided, single submitter clinical testing

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