ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.641+9C>T

gnomAD frequency: 0.00337  dbSNP: rs189840088
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179000 SCV000231188 likely benign not specified 2014-11-15 criteria provided, single submitter clinical testing
Invitae RCV000878016 SCV001020855 benign Isolated microphthalmia 5 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001729430 SCV002821672 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing C1QTNF5: BS2; MFRP: BS2
PreventionGenetics, part of Exact Sciences RCV004537476 SCV004741228 likely benign MFRP-related disorder 2019-06-19 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).
Clinical Genetics, Academic Medical Center RCV000179000 SCV001978890 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729430 SCV001980653 likely benign not provided 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.