Submissions for variant NM_001009944.3(PKD1):c.10768C>T (p.Leu3590=)

gnomAD frequency: 0.02380  dbSNP: rs116114803

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246969	SCV000305669	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000576633	SCV000604727	benign	Polycystic kidney disease, adult type	2020-05-08	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000576633	SCV000677388	benign	Polycystic kidney disease, adult type	2017-05-15	criteria provided, single submitter	clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research	RCV001254231	SCV001430174	benign	Autosomal dominant polycystic kidney disease	2019-01-01	criteria provided, single submitter	research
GeneDx	RCV001706302	SCV001884428	benign	not provided	2020-10-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19686598, 11058904, 15772804)
Breakthrough Genomics, Breakthrough Genomics	RCV001706302	SCV005290675	benign	not provided		criteria provided, single submitter	not provided
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000246969	SCV000592849	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000246969	SCV001798722	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000246969	SCV001954922	benign	not specified		no assertion criteria provided	clinical testing