Submissions for variant NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)

gnomAD frequency: 0.00188  dbSNP: rs141859946

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000356036	SCV000450258	likely benign	Ellis-van Creveld syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000542079	SCV000634716	benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001573985	SCV000714050	benign	not provided	2020-03-25	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000542079	SCV000782673	uncertain significance	Ellis-van Creveld syndrome; Curry-Hall syndrome	2017-06-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000609966	SCV000856209	likely benign	not specified	2017-08-17	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573985	SCV000883810	likely benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573985	SCV004147612	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	EVC: BP4, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573985	SCV001800640	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573985	SCV001968929	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000356036	SCV002083028	benign	Ellis-van Creveld syndrome	2019-10-21	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902350	SCV004733266	likely benign	EVC-related disorder	2019-06-13	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).