ClinVar Miner

Variants in gene FKTN

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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
42 29 260 96 45 390

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Walker-Warburg congenital muscular dystrophy 20 2 90 34 9 155
Fukuyama congenital muscular dystrophy 3 22 98 16 16 152
not provided 16 7 83 24 12 137
Dilated cardiomyopathy 1X 3 0 97 11 0 111
not specified 0 0 6 35 23 55
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
Dilated Cardiomyopathy, Recessive 0 0 7 0 0 7
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
Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 5 0 0 0 0 5
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
Hypertrophic cardiomyopathy 0 0 0 1 1 2
Cardiomyopathy; Ventricular tachycardia 0 0 0 1 0 1
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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 19 2 90 44 9 164
Illumina Clinical Services Laboratory,Illumina 1 0 104 24 15 117
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 12 1 62 4 14 93
GeneDx 6 4 20 34 23 87
Counsyl 3 19 12 0 0 34
Ambry Genetics 0 0 8 8 6 22
OMIM 18 0 1 0 0 19
Athena Diagnostics Inc 0 1 4 3 7 15
PreventionGenetics,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 3 2 2 3 2 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 2 2 6
Fulgent Genetics,Fulgent Genetics 0 1 4 0 0 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 3 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 0 0 4
Baylor Genetics 2 1 0 0 0 3
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 2 1 3
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
Mendelics 0 0 0 0 1 1
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
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1

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