ClinVar Miner

Variants in gene combination LOC126806421, TTN

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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 total
4 41 120 136 16 270

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 1 29 31 92 7 160
not provided 3 6 68 38 5 103
Cardiovascular phenotype 0 8 27 58 4 96
not specified 0 0 18 18 13 39
Dilated cardiomyopathy 1G 0 5 11 1 1 18
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 1 10 0 5 16
Cardiomyopathy 0 1 5 4 6 16
Early-onset myopathy with fatal cardiomyopathy 0 1 10 0 5 16
Tibial muscular dystrophy 0 0 4 0 12 16
Myopathy, myofibrillar, 9, with early respiratory failure 0 0 3 0 12 15
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 1 13 0 0 14
Primary dilated cardiomyopathy 0 4 3 0 0 7
TTN-related disorder 0 0 3 4 0 7
Dilated cardiomyopathy 1A 0 0 1 0 0 1
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 0 0 1 0 0 1
Hypertrophic cardiomyopathy 9 0 0 1 0 0 1
Primary familial dilated cardiomyopathy 0 1 0 0 0 1
TTN-related myopathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1 29 31 94 7 162
Ambry Genetics 0 8 27 58 4 96
GeneDx 3 5 12 26 8 54
Eurofins Ntd Llc (ga) 0 0 31 2 2 35
Revvity Omics, Revvity 0 1 31 1 0 33
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 12 9 4 26
CeGaT Center for Human Genetics Tuebingen 0 0 5 13 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 4 6 4 16
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 1 4 4 6 15
Fulgent Genetics, Fulgent Genetics 0 1 13 0 0 14
Illumina Laboratory Services, Illumina 0 0 10 1 9 12
Athena Diagnostics 0 0 5 1 4 10
PreventionGenetics, part of Exact Sciences 0 0 3 4 2 9
Clinical Genetics, Academic Medical Center 0 0 1 0 7 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 8 0 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 3 4 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 6 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 1 2 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 3 2 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 1 6
Genome-Nilou Lab 0 0 0 0 5 5
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 0 2 3
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 1 3
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 2
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 1 1 0 0 2
Lildballe Lab, Aarhus University Hospital 0 2 0 0 0 2
Baylor Genetics 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 1 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 0 1 0 0 0 1

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