ClinVar Miner

Submissions for variant NM_005087.4(FXR1):c.52-7C>T

gnomAD frequency: 0.00249  dbSNP: rs202081242
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000903851 SCV001048338 benign not provided 2018-06-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495466 SCV002797299 likely benign Myopathy, congenital, with respiratory insufficiency and bone fractures; Myopathy, congenital proximal, with minicore lesions 2022-05-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000903851 SCV004149464 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing FXR1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000903851 SCV005302537 benign not provided criteria provided, single submitter not provided

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.