ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3467G>C (p.Gly1156Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002301062 SCV002588413 uncertain significance not provided 2022-04-21 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
Fulgent Genetics, Fulgent Genetics RCV005008529 SCV005640916 uncertain significance Polycystic kidney disease, adult type 2024-03-05 criteria provided, single submitter clinical testing

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