ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6638G>C (p.Arg2213Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004546867 SCV005040855 uncertain significance Polycystic kidney disease, adult type 2022-09-16 criteria provided, single submitter clinical testing ACMG Criteria: PM_SUP, PP3, PP4
GeneDx RCV004588560 SCV005080075 uncertain significance not provided 2023-06-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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