ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.189C>T (p.Ile63=)

gnomAD frequency: 0.00001  dbSNP: rs1424503926
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537943 SCV000647044 likely benign X-linked myopathy with postural muscle atrophy 2023-07-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483457 SCV002798861 likely benign Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; X-linked myopathy with postural muscle atrophy; Uruguay Faciocardiomusculoskeletal syndrome; X-linked scapuloperoneal muscular dystrophy 2021-07-15 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.