ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) (rs398123617)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000514621 SCV000111577 uncertain significance not provided 2013-05-13 criteria provided, single submitter clinical testing
GeneDx RCV000514621 SCV000250385 likely benign not provided 2021-01-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514621 SCV000610584 likely benign not provided 2017-07-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000196824 SCV000613324 benign not specified 2017-07-05 criteria provided, single submitter clinical testing
Invitae RCV001089189 SCV000762360 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-09-13 criteria provided, single submitter 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.