ClinVar Miner

Variants in gene FKTN

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
31 28 184 49 25 279

Condition and significance breakdown #

Total conditions: 15
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 16 7 80 1 3 105
Fukuyama congenital muscular dystrophy 3 20 68 5 0 96
Walker-Warburg congenital muscular dystrophy 4 1 52 15 9 81
Dilated Cardiomyopathy, Recessive 0 0 55 5 0 60
not specified 0 0 7 34 23 54
Cardiovascular phenotype 0 0 8 8 6 22
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 11 0 0 0 0 11
Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 6 0 0 0 0 6
Cardiomyopathy 0 0 1 2 2 5
Dilated cardiomyopathy 1X; Fukuyama congenital muscular dystrophy; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 0 1 4 0 0 5
Dilated cardiomyopathy 1X 3 0 0 0 0 3
Fukuyama congenital muscular dystrophy; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4; Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 1 0 0 0 2 3
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 2 0 0 0 0 2
FKTN-Related Disorders 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 12 1 62 4 14 93
Invitae 4 1 52 15 9 81
GeneDx 6 4 20 22 16 68
Illumina Clinical Services Laboratory,Illumina 1 0 55 5 0 61
Counsyl 2 19 12 0 0 33
Ambry Genetics 0 0 8 8 6 22
OMIM 18 0 1 0 0 19
PreventionGenetics 0 0 0 6 8 14
Genetic Services Laboratory, University of Chicago 0 0 3 8 2 13
Integrated Genetics/Laboratory Corporation of America 2 3 3 2 2 12
Athena Diagnostics Inc 0 1 4 2 4 11
Fulgent Genetics 0 1 4 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 3 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 0 0 1 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 0 0 0 1

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.