ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.7947C>T (p.Phe2649=) (rs368849358)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244124 SCV000307976 likely benign not specified 2015-12-30 criteria provided, single submitter clinical testing
GeneDx RCV001697691 SCV000524848 likely benign not provided 2021-01-12 criteria provided, single submitter clinical testing
Invitae RCV000542823 SCV000651181 benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2020-11-30 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578028 SCV000679853 likely benign Primary dilated cardiomyopathy 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578104 SCV000679854 likely benign Myopathy, distal, 4 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577968 SCV000679855 likely benign Hypertrophic cardiomyopathy 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578026 SCV000679856 likely benign Myofibrillar myopathy, filamin C-related 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578102 SCV000679857 likely benign Cardiomyopathy, familial hypertrophic, 26 2017-08-01 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000244124 SCV001926240 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001697691 SCV001926736 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000244124 SCV001953042 benign not specified no assertion criteria provided 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.