ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2216G>A (p.Arg739Gln)

gnomAD frequency: 0.96687  dbSNP: rs40433
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989464 SCV001139795 benign Polycystic kidney disease, adult type 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000989464 SCV001156812 benign Polycystic kidney disease, adult type 2018-07-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989464 SCV001763283 benign Polycystic kidney disease, adult type 2021-07-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528470 SCV001740268 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528470 SCV001927533 benign not specified no assertion criteria provided clinical testing

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