ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys)

gnomAD frequency: 0.00289  dbSNP: rs146096401
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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 RCV000250725 SCV000305764 benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000989456 SCV001139786 benign Polycystic kidney disease, adult type 2023-08-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000989456 SCV001157192 benign Polycystic kidney disease, adult type 2020-04-15 criteria provided, single submitter clinical testing
GeneDx RCV001640496 SCV001860525 benign not provided 2020-02-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26632257, 17574468)
CeGaT Center for Human Genetics Tuebingen RCV001640496 SCV004142865 benign not provided 2022-06-01 criteria provided, single submitter clinical testing PKD1: BP4, BS1, BS2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001640496 SCV001970352 likely benign not provided no assertion criteria provided clinical testing

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