ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8161+21T>C

gnomAD frequency: 0.64655  dbSNP: rs4786209
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508340 SCV000604671 benign Polycystic kidney disease, adult type 2020-04-22 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001254185 SCV001430158 benign Autosomal dominant polycystic kidney disease 2019-01-01 criteria provided, single submitter research
Genome-Nilou Lab RCV000508340 SCV001763265 benign Polycystic kidney disease, adult type 2021-07-14 criteria provided, single submitter clinical testing

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