Submissions for variant NM_153717.3(EVC):c.1026G>C (p.Leu342=)

gnomAD frequency: 0.52761  dbSNP: rs4688962

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247308	SCV000316356	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000345568	SCV000450232	benign	Ellis-van Creveld syndrome	2018-01-12	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	RCV000247308	SCV000516341	benign	not specified	2016-03-03	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515070	SCV001723059	benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000345568	SCV001738626	benign	Ellis-van Creveld syndrome	2021-06-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001706394	SCV001876205	benign	Curry-Hall syndrome	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000345568	SCV001876206	benign	Ellis-van Creveld syndrome	2021-07-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004717131	SCV005297748	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000345568	SCV001454800	benign	Ellis-van Creveld syndrome	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000247308	SCV001740478	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000247308	SCV001951814	benign	not specified		no assertion criteria provided	clinical testing