ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6512-7A>G

gnomAD frequency: 0.00007  dbSNP: rs201462445
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227899 SCV000287274 likely benign Congenital contractural arachnodactyly 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000605545 SCV000728426 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701314 SCV005204968 benign not specified 2024-06-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897537 SCV004714171 likely benign FBN2-related disorder 2022-02-22 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).

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.