ClinVar Miner

Variants in gene combination LOC126806423, TTN

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Minimum submission review status: Collection method:
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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 not provided total
6 64 112 151 16 2 303

Condition and significance breakdown #

Total conditions: 17
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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 3 38 36 117 7 0 201
not provided 3 11 59 24 6 2 92
Cardiovascular phenotype 1 6 28 45 4 0 84
not specified 0 0 19 23 9 0 43
Dilated cardiomyopathy 1G 4 9 11 3 1 0 28
Cardiomyopathy 0 3 7 8 3 0 21
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 10 3 6 0 17
Early-onset myopathy with fatal cardiomyopathy 0 0 9 2 7 0 16
Myopathy, myofibrillar, 9, with early respiratory failure 0 0 3 2 11 0 16
Tibial muscular dystrophy 0 0 3 1 12 0 16
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 1 2 10 1 1 0 15
TTN-related disorder 0 3 8 3 0 0 14
Primary dilated cardiomyopathy 1 6 0 1 0 0 8
Centronuclear myopathy 1 0 0 0 0 0 1
Familial restrictive cardiomyopathy 0 1 0 0 0 0 1
Feingold syndrome type 1 1 0 0 0 0 0 1
Hypertrophic cardiomyopathy 9 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3 38 36 117 7 0 201
Ambry Genetics 1 6 28 45 4 0 84
GeneDx 3 4 15 24 8 2 56
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 13 9 4 0 27
Revvity Omics, Revvity 0 3 24 0 0 0 27
Eurofins Ntd Llc (ga) 0 3 15 0 2 0 20
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 2 7 7 3 0 19
PreventionGenetics, part of Exact Sciences 0 2 8 5 3 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 5 5 6 0 16
Fulgent Genetics, Fulgent Genetics 1 1 10 1 1 0 14
Illumina Laboratory Services, Illumina 0 0 10 6 10 0 14
CeGaT Center for Human Genetics Tuebingen 0 1 5 6 0 0 12
Athena Diagnostics 1 0 5 1 3 0 10
Clinical Genetics, Academic Medical Center 0 1 0 0 7 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 5 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 3 2 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Mayo Clinic Laboratories, Mayo Clinic 1 0 4 0 0 0 5
Breakthrough Genomics, Breakthrough Genomics 0 0 1 2 2 0 5
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 1 3 1 0 0 0 5
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 4 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 1 2 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 0 2 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 1 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 1 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 1 0 0 2
Blueprint Genetics 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 1 0 1 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
KTest Genetics, KTest 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 1 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Klaassen Lab, Charite University Medicine Berlin 0 1 0 0 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 0 1 0 0 1
Research Unit of Cardiovascular and Metabolic Disease, Inserm 0 1 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 0 0 0 1
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 1 0 0 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 1 0 0 0 0 1

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