ClinVar Miner

Variants in gene combination LOC126806425, TTN

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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 not provided total
11 60 104 144 29 3 280

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2 39 26 109 9 0 185
Cardiovascular phenotype 3 10 22 46 6 0 87
not provided 7 7 58 30 6 3 86
not specified 0 0 27 27 18 0 55
Dilated cardiomyopathy 1G 0 8 19 4 0 0 31
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 2 19 1 9 0 30
Myopathy, myofibrillar, 9, with early respiratory failure 0 1 7 3 18 0 28
Early-onset myopathy with fatal cardiomyopathy 0 1 17 1 9 0 27
Tibial muscular dystrophy 0 1 5 2 19 0 27
Cardiomyopathy 0 3 3 7 6 0 19
TTN-related disorder 1 2 5 9 0 0 17
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 0 2 12 1 0 0 15
Primary dilated cardiomyopathy 1 4 0 1 1 0 7
Hypertrophic cardiomyopathy 9 0 1 1 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 1 0 0 1
Primary familial dilated cardiomyopathy 0 1 0 0 0 0 1
Tip-toe gait 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 39 26 110 9 0 186
Ambry Genetics 3 10 22 46 6 0 87
GeneDx 6 4 15 26 13 3 67
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 19 6 5 0 31
Eurofins Ntd Llc (ga) 0 0 21 3 0 0 24
Illumina Laboratory Services, Illumina 0 0 18 7 14 0 22
Revvity Omics, Revvity 0 0 20 1 0 0 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 3 3 10 5 0 21
PreventionGenetics, part of Exact Sciences 0 2 4 9 4 0 19
CeGaT Center for Human Genetics Tuebingen 1 2 9 6 1 0 19
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 2 3 7 6 0 18
Athena Diagnostics 0 0 6 2 7 0 15
Clinical Genetics, Academic Medical Center 0 1 5 0 9 0 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 6 3 6 0 15
Fulgent Genetics, Fulgent Genetics 0 1 12 1 0 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 5 2 4 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 2 3 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 1 2 3 0 7
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 3 2 0 6
Genetic Services Laboratory, University of Chicago 0 0 2 2 2 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 4 0 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 2 0 6
Breakthrough Genomics, Breakthrough Genomics 0 0 0 5 1 0 6
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 0 3 1 0 0 0 4
Baylor Genetics 0 1 2 0 0 0 3
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 0 2 1 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Lildballe Lab, Aarhus University Hospital 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 0 1 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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