Submissions for variant NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys)

gnomAD frequency: 0.00001  dbSNP: rs555666020

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000951477	SCV001097881	likely benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2024-01-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001144286	SCV001304876	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.
Fulgent Genetics, Fulgent Genetics	RCV000951477	SCV002811216	likely benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2021-07-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003960631	SCV004776997	likely benign	EVC2-related disorder	2022-04-12	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).