ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2489C>T (p.Ala830Val)

gnomAD frequency: 0.00002  dbSNP: rs775988021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774504 SCV002001951 uncertain significance not provided 2020-02-12 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 RCV002503233 SCV002807004 uncertain significance Polycystic kidney disease, adult type 2022-02-09 criteria provided, single submitter clinical testing

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