Submissions for variant NM_153717.3(EVC):c.1855G>A (p.Val619Ile)

gnomAD frequency: 0.00354  dbSNP: rs111293777

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174618	SCV000225941	benign	not specified	2015-04-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000174618	SCV000316368	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000352203	SCV000450292	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000757226	SCV000530510	benign	not provided	2019-11-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082055	SCV000758490	benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757226	SCV000885374	benign	not provided	2023-11-06	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000352203	SCV002083043	benign	Ellis-van Creveld syndrome	2019-12-16	no assertion criteria provided	clinical testing