Submissions for variant NM_016938.5(EFEMP2):c.738G>A (p.Glu246=)

gnomAD frequency: 0.00083  dbSNP: rs144780990

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000539989	SCV000652069	benign	Cutis laxa, autosomal recessive, type 1B	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001697378	SCV000717477	likely benign	not provided	2021-06-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics	RCV002384231	SCV002673577	benign	Cardiovascular phenotype	2020-06-30	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330792	SCV004039363	likely benign	not specified	2023-08-24	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001697378	SCV005213652	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003952836	SCV004769614	likely benign	EFEMP2-related disorder	2019-04-11	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).