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
54 31 309 117 47 471

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Walker-Warburg congenital muscular dystrophy 32 4 151 61 9 257
Fukuyama congenital muscular dystrophy 5 22 98 16 16 153
not provided 16 7 83 24 11 137
Dilated cardiomyopathy 1X 6 0 97 11 0 114
not specified 0 0 7 36 25 57
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
none provided 0 0 0 0 8 8
Dilated Cardiomyopathy, Recessive 0 0 7 0 0 7
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
Cardiomyopathy 0 0 1 1 2 4
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 2 0 0 0 0 2
Fukuyama congenital muscular dystrophy; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4; Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 1 0 0 0 1 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
Primary dilated cardiomyopathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 31 4 151 67 9 262
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 2 19 12 0 0 33
Ambry Genetics 0 0 8 8 6 22
Integrated Genetics/Laboratory Corporation of America 5 2 3 6 4 20
OMIM 18 0 1 0 0 19
Athena Diagnostics Inc 0 1 5 3 7 16
PreventionGenetics, PreventionGenetics 0 0 0 6 8 14
Genetic Services Laboratory, University of Chicago 0 0 3 8 2 13
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 1 2 8 12
Baylor Genetics 4 1 0 0 0 5
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 3 1 0 4
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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
Genetics and Genomics Program,Sidra Medicine 0 0 1 0 0 1

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