Submissions for variant NM_147127.5(EVC2):c.307T>C (p.Leu103=)

gnomAD frequency: 0.00416  dbSNP: rs140877783

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000306502	SCV000450111	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.
Invitae	RCV000538196	SCV000634702	benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2024-01-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001591009	SCV001474227	benign	not provided	2020-06-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001591009	SCV001824781	likely benign	not provided	2021-03-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821061	SCV002066266	benign	not specified	2019-08-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001591009	SCV004042199	benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	EVC2: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003902348	SCV004733394	benign	EVC2-related condition	2019-09-26	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).