ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7007A>G (p.Tyr2336Cys)

dbSNP: rs2151783812
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001653032 SCV001871135 uncertain significance not provided 2021-07-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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 RCV002495983 SCV002804075 uncertain significance Polycystic kidney disease, adult type 2021-12-29 criteria provided, single submitter clinical testing

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