Submissions for variant NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser)

gnomAD frequency: 0.00205  dbSNP: rs145277501

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000391787	SCV000332630	likely benign	not specified	2018-06-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000878363	SCV001021259	likely benign	Ellis-van Creveld syndrome; Curry-Hall syndrome	2025-01-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001555809	SCV001157301	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001155559	SCV001316996	likely benign	Ellis-van Creveld syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV001555809	SCV001777279	likely benign	not provided	2020-08-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25047945)
Breakthrough Genomics, Breakthrough Genomics	RCV001555809	SCV005256669	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001555809	SCV001799400	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000391787	SCV001932808	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001555809	SCV001973184	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955433	SCV004766643	likely benign	EVC2-related disorder	2021-01-13	no assertion criteria provided	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).