ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.8313T>C (p.Asn2771=)

gnomAD frequency: 0.00012  dbSNP: rs148344513
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334203 SCV001526987 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 2 2018-03-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002070181 SCV002408256 benign not provided 2025-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953673 SCV004777882 likely benign FAT4-related disorder 2022-07-20 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.