ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3425G>A (p.Arg1142Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004721939 SCV005327651 uncertain significance not provided 2024-03-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005363346 SCV005916315 uncertain significance Polycystic kidney disease, adult type 2019-01-07 criteria provided, single submitter clinical testing

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