Submissions for variant NM_004444.5(EPHB4):c.691C>T (p.Pro231Ser)

gnomAD frequency: 0.00077  dbSNP: rs147563837

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000880793	SCV001023915	likely benign	not provided	2023-11-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000880793	SCV001473802	likely benign	not provided	2023-09-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003307660	SCV004001570	benign	Cardiovascular phenotype	2023-05-18	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	RCV000880793	SCV004162682	benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	EPHB4: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003930524	SCV004739837	likely benign	EPHB4-related disorder	2020-08-31	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).