Submissions for variant NM_000041.4(APOE):c.942C>T (p.Ser314=)

gnomAD frequency: 0.00001  dbSNP: rs1051068315

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000901036	SCV001045383	likely benign	not provided	2018-02-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444998	SCV002683162	likely benign	Cardiovascular phenotype	2021-01-27	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.
CeGaT Center for Human Genetics Tuebingen	RCV000901036	SCV003918147	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	APOE: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000901036	SCV001809491	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000901036	SCV001921397	likely benign	not provided		no assertion criteria provided	clinical testing