ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8949-20G>A

gnomAD frequency: 0.03318  dbSNP: rs9936029
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252326 SCV000305810 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000311 SCV001156990 benign Polycystic kidney disease, adult type 2020-06-02 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795417 SCV002036699 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000252326 SCV002037407 benign not specified no assertion criteria provided clinical testing

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