Submissions for variant NM_000041.4(APOE):c.137T>C (p.Leu46Pro)

gnomAD frequency: 0.00199  dbSNP: rs769452

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000429606	SCV000521316	benign	not provided	2020-03-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24126160, 24082139, 11068149, 22530123, 10213152, 23990795, 26802169, 16621646, 26206375, 24644280)
Invitae	RCV000429606	SCV001054495	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000429606	SCV001151948	uncertain significance	not provided	2023-04-01	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001195944	SCV001366368	uncertain significance	Alzheimer disease 4	2016-01-01	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PS3.
AiLife Diagnostics, AiLife Diagnostics	RCV000429606	SCV002501375	uncertain significance	not provided	2021-05-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379036	SCV002699810	likely benign	Cardiovascular phenotype	2020-07-08	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.