Submissions for variant NM_147127.5(EVC2):c.2077G>A (p.Val693Ile)

gnomAD frequency: 0.00009  dbSNP: rs199824658

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000970010	SCV001117564	benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2024-10-26	criteria provided, single submitter	clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	RCV001731998	SCV001984650	benign	Ellis-van Creveld syndrome	2020-06-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000970010	SCV002807313	likely benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2022-04-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003456464	SCV004185212	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	EVC2: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003456464	SCV005304762	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003960819	SCV004769416	likely benign	EVC2-related disorder	2022-08-22	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).