ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8016+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV003324099 SCV004028547 likely pathogenic Polycystic kidney disease, adult type 2023-08-21 criteria provided, single submitter clinical testing ACMG: PVS1_strong, PM2
Fulgent Genetics, Fulgent Genetics RCV003324099 SCV005638253 likely pathogenic Polycystic kidney disease, adult type 2024-01-08 criteria provided, single submitter clinical testing

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