ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7835C>T (p.Ser2612Leu)

gnomAD frequency: 0.00015  dbSNP: rs200646755
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776652 SCV002013374 uncertain significance not provided 2024-08-02 criteria provided, single submitter clinical testing 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 RCV002482293 SCV002775183 uncertain significance Polycystic kidney disease, adult type 2022-04-13 criteria provided, single submitter clinical testing

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