ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) (rs148164067)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253222 SCV000305742 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755348 SCV000604777 benign Polycystic kidney disease, adult type 2020-04-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000253222 SCV001476611 benign not specified 2020-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001573560 SCV001941236 benign not provided 2020-03-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17574468, 18640754, 22383692, 18837007, 22008521)
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000253222 SCV000592775 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573560 SCV001799613 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000253222 SCV001927662 benign not specified no assertion criteria provided clinical testing

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