Submissions for variant NM_147127.5(EVC2):c.2601C>T (p.Ala867=)

gnomAD frequency: 0.00357  dbSNP: rs116514447

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000399630	SCV000332627	benign	not specified	2015-06-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000278482	SCV000449996	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	RCV001711851	SCV000518628	benign	not provided	2018-07-23	criteria provided, single submitter	clinical testing
Invitae	RCV000878027	SCV001020867	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	RCV001711851	SCV001159406	benign	not provided	2022-03-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001711851	SCV002821238	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	EVC2: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV003939942	SCV004749094	likely benign	EVC2-related condition	2020-01-03	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).