Submissions for variant NM_004444.5(EPHB4):c.1067C>G (p.Thr356Ser)

gnomAD frequency: 0.00021  dbSNP: rs192640017

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001699843	SCV002308171	likely benign	not provided	2023-10-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002414297	SCV002719517	benign	Cardiovascular phenotype	2022-01-06	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.
Fulgent Genetics, Fulgent Genetics	RCV002488465	SCV002777146	uncertain significance	Lymphatic malformation 7; Capillary malformation-arteriovenous malformation 2	2021-07-20	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699843	SCV001919293	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001699843	SCV001963600	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004752038	SCV005348120	likely benign	EPHB4-related disorder	2024-08-16	no assertion criteria provided	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).