Submissions for variant NM_004444.5(EPHB4):c.2670G>T (p.Glu890Asp)

gnomAD frequency: 0.00547  dbSNP: rs35638378

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000954112	SCV001100721	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000954112	SCV001477605	benign	not provided	2023-11-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002427387	SCV002743871	benign	Cardiovascular phenotype	2020-01-21	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000954112	SCV002821829	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	EPHB4: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000954112	SCV005221159	likely benign	not provided		criteria provided, single submitter	not provided