ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.810A>G (p.Pro270=)

gnomAD frequency: 0.00017  dbSNP: rs150546623
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000543105 SCV001783032 likely benign not provided 2020-09-23 criteria provided, single submitter clinical testing
Invitae RCV002060351 SCV002483100 likely benign Cutis laxa, autosomal recessive, type 1B 2022-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420509 SCV002678847 likely benign Cardiovascular phenotype 2019-04-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003488688 SCV004240860 likely benign not specified 2023-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905432 SCV004718561 likely benign EFEMP2-related disorder 2019-07-30 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).

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.