ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2212C>A (p.His738Asn)

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 RCV003333572 SCV004041275 uncertain significance Hypertrophic cardiomyopathy 26 2023-08-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333571 SCV004041307 uncertain significance Distal myopathy with posterior leg and anterior hand involvement 2023-08-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333570 SCV004041439 uncertain significance Myofibrillar myopathy 5 2023-08-29 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.