ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.4307G>A (p.Arg1436Gln)

gnomAD frequency: 0.00067  dbSNP: rs140018418
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
Eurofins Ntd Llc (ga) RCV000292618 SCV000336933 uncertain significance not provided 2015-11-06 criteria provided, single submitter clinical testing
Invitae RCV000292618 SCV001114232 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000292618 SCV001779400 uncertain significance not provided 2022-04-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
CeGaT Center for Human Genetics Tuebingen RCV000292618 SCV004150383 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947877 SCV004766032 likely benign FLNB-related condition 2024-01-24 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.