ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile)

gnomAD frequency: 0.04174  dbSNP: rs137978188
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243544 SCV000305757 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001569 SCV001158957 benign Polycystic kidney disease, adult type 2020-06-02 criteria provided, single submitter clinical testing
GeneDx RCV001576880 SCV001804152 likely benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001292036 SCV001480653 benign Polycystic kidney disease no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000243544 SCV002035504 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000243544 SCV002037345 benign not specified no assertion criteria provided clinical testing

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