ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)

gnomAD frequency: 0.00188  dbSNP: rs141859946
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000356036 SCV000450258 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.
Invitae RCV000542079 SCV000634716 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001573985 SCV000714050 benign not provided 2020-03-25 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000542079 SCV000782673 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2017-06-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000609966 SCV000856209 likely benign not specified 2017-08-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001573985 SCV000883810 likely benign not provided 2023-11-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573985 SCV004147612 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing EVC: BP4
PreventionGenetics, part of Exact Sciences RCV003902350 SCV004733266 likely benign EVC-related disorder 2019-06-13 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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573985 SCV001800640 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573985 SCV001968929 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000356036 SCV002083028 benign Ellis-van Creveld syndrome 2019-10-21 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.