ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=)

gnomAD frequency: 0.00705  dbSNP: rs113369380
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246197 SCV000305677 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999847 SCV000604792 benign Polycystic kidney disease, adult type 2019-02-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000755619 SCV001144950 benign not provided 2018-09-18 criteria provided, single submitter clinical testing
GeneDx RCV000755619 SCV001869481 benign not provided 2020-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25757501)
Fulgent Genetics, Fulgent Genetics RCV000999847 SCV002809491 likely benign Polycystic kidney disease, adult type 2021-11-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000755619 SCV005290669 benign not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000999847 SCV006058190 benign Polycystic kidney disease, adult type 2020-07-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000246197 SCV003839839 benign not specified 2022-05-10 no assertion criteria provided clinical testing

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