ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9713-17C>G

gnomAD frequency: 0.00002  dbSNP: rs766238514
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002489839 SCV002801725 likely benign Polycystic kidney disease, adult type 2021-12-03 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795790 SCV002036762 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001795790 SCV002037498 likely benign not provided no assertion criteria provided clinical testing

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