ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9411C>G (p.His3137Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Immunology and Genetics Kaiserslautern RCV003988181 SCV004803216 likely pathogenic Polycystic kidney disease, adult type 2024-03-05 criteria provided, single submitter clinical testing ACMG Criteria: PM2, PM5, PP1, PP4; Variant was found in heterozygous state

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