Submissions for variant NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=)

gnomAD frequency: 0.32172  dbSNP: rs3087632

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249439	SCV000305692	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000576333	SCV000604688	benign	Polycystic kidney disease, adult type	2020-07-07	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000576333	SCV000677395	benign	Polycystic kidney disease, adult type	2017-05-25	criteria provided, single submitter	clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research	RCV001254260	SCV001430177	benign	Autosomal dominant polycystic kidney disease	2019-01-01	criteria provided, single submitter	research
GeneDx	RCV001706308	SCV001898552	benign	not provided	2019-08-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32957937)
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001291883	SCV000592862	benign	Polycystic kidney disease		no assertion criteria provided	clinical testing	The 12276A>G, p.Ala4092Ala variant was identified in 19.6% of 22546 control alleles in the Exome Aggregation Consortium (March 14, 2016). According to ACMG guidelines for variant classification based on allele frequency, category BA1, this variant is considered benign and has not been further reviewed (Richards 2015).