Submissions for variant NM_153717.3(EVC):c.1636A>G (p.Met546Val)

gnomAD frequency: 0.00209  dbSNP: rs112608085

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000334261	SCV000450272	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.
GeneDx	RCV000441601	SCV000518612	likely benign	not specified	2016-12-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000441601	SCV000856522	likely benign	not specified	2018-06-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756097	SCV000883814	likely benign	not provided	2017-10-24	criteria provided, single submitter	clinical testing
Invitae	RCV001082025	SCV001020998	likely benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000756097	SCV004042200	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	EVC: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003950233	SCV004759914	likely benign	EVC-related condition	2022-02-08	criteria provided, single submitter	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).