Submissions for variant NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=)

gnomAD frequency: 0.03878  dbSNP: rs2099534

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253865	SCV000305719	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000576799	SCV000604696	benign	Polycystic kidney disease, adult type	2020-04-15	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000576799	SCV000677406	benign	Polycystic kidney disease, adult type	2017-06-05	criteria provided, single submitter	clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research	RCV001254288	SCV001430254	benign	Autosomal dominant polycystic kidney disease	2019-01-01	criteria provided, single submitter	research
GeneDx	RCV001706314	SCV001832090	benign	not provided	2020-02-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 10364515, 22383692, 15772804, 11857740, 17574468, 22008521, 18837007)
Breakthrough Genomics, Breakthrough Genomics	RCV001706314	SCV005290735	benign	not provided		criteria provided, single submitter	not provided
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000253865	SCV000592756	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001706314	SCV002036882	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000253865	SCV002037562	benign	not specified		no assertion criteria provided	clinical testing