Submissions for variant NM_001009944.3(PKD1):c.2730C>T (p.Asp910=)

gnomAD frequency: 0.05024  dbSNP: rs35965348

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248211	SCV000305712	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000576395	SCV000604678	benign	Polycystic kidney disease, adult type	2020-04-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000576395	SCV000677404	benign	Polycystic kidney disease, adult type	2017-06-09	criteria provided, single submitter	clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research	RCV001254200	SCV001430221	benign	Autosomal dominant polycystic kidney disease	2019-01-01	criteria provided, single submitter	research
GeneDx	RCV001711668	SCV001945230	benign	not provided	2019-10-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711668	SCV005290740	benign	not provided		criteria provided, single submitter	not provided
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001291860	SCV000592750	benign	Polycystic kidney disease		no assertion criteria provided	clinical testing	Thec.2730C>T, p.Asp910Asp variant was identified in 5.5% of 6399 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).