ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5764G>A (p.Ala1922Thr)

gnomAD frequency: 0.00040  dbSNP: rs202128602
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000355985 SCV000338440 benign not specified 2016-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000842225 SCV000984225 benign not provided 2018-06-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001078596 SCV001047838 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000355985 SCV001879770 benign not specified 2020-12-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000355985 SCV002069862 benign not specified 2020-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356383 SCV002650740 benign Cardiovascular phenotype 2022-08-04 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000842225 SCV002821854 benign not provided 2023-03-01 criteria provided, single submitter clinical testing FLNC: BS1, BS2
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486805 SCV004240661 benign Cardiomyopathy 2023-06-23 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.