ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8161+38G>A

gnomAD frequency: 0.17977  dbSNP: rs57922772
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507311 SCV000604707 benign Polycystic kidney disease, adult type 2020-04-20 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001254266 SCV001430183 benign Autosomal dominant polycystic kidney disease 2019-01-01 criteria provided, single submitter research

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