ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.5001C>T (p.Pro1667=)

gnomAD frequency: 0.00016  dbSNP: rs368052188
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000951518 SCV001097923 benign Epileptic encephalopathy 2024-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710215 SCV005254046 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003933318 SCV004753882 likely benign FASN-related disorder 2023-07-18 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.