Submissions for variant NM_000078.3(CETP):c.1264G>A (p.Val422Ile)

gnomAD frequency: 0.58912  dbSNP: rs5882

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000283037	SCV000398223	benign	Hyperalphalipoproteinemia 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV001636604	SCV001849932	benign	not provided	2018-08-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 10092998, 23977315, 25260850, 22464147, 21767357, 20068209, 14559957, 19242900, 23274582, 22122979)
Invitae	RCV001636604	SCV002406588	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory	RCV002243654	SCV002515855	benign	Coronary artery disorder	2022-05-12	criteria provided, single submitter	clinical testing
OMIM	RCV000019077	SCV000039364	association	High density lipoprotein cholesterol level quantitative trait locus 10	2010-01-13	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000283037	SCV000733510	benign	Hyperalphalipoproteinemia 1		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699101	SCV001922748	benign	not specified		no assertion criteria provided	clinical testing