Submissions for variant NM_001009944.3(PKD1):c.3275T>C (p.Met1092Thr)

gnomAD frequency: 0.20904  dbSNP: rs2549677

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243025	SCV000305722	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000576413	SCV000604692	benign	Polycystic kidney disease, adult type	2020-07-07	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000576413	SCV000677407	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	RCV001254292	SCV001430194	likely benign	Autosomal dominant polycystic kidney disease	2019-01-01	criteria provided, single submitter	research
GeneDx	RCV001711669	SCV001945448	benign	not provided	2019-12-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22608885)
Breakthrough Genomics, Breakthrough Genomics	RCV001711669	SCV005219011	likely benign	not provided		criteria provided, single submitter	not provided
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001291871	SCV000592759	benign	Polycystic kidney disease		no assertion criteria provided	clinical testing	The c.3275T>C, p.Met1092Thr variant was identified in 7.5% of 6086 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).