ClinVar Miner

Variants in gene combination LOC126806429, TTN

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Gene type:
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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
1 4 61 84 13 136

Condition and significance breakdown #

Total conditions: 15
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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 3 20 66 6 96
not provided 0 0 39 15 4 48
not specified 0 0 9 15 9 24
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 5 2 6 12
Cardiomyopathy 0 1 3 5 3 12
Early-onset myopathy with fatal cardiomyopathy 0 0 5 2 6 12
Myopathy, myofibrillar, 9, with early respiratory failure 0 0 1 1 10 12
Tibial muscular dystrophy 0 0 1 1 10 12
Dilated cardiomyopathy 1G 0 0 5 3 0 8
TTN-related disorder 0 0 2 5 0 7
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 0 4 0 0 4
Cardiovascular phenotype 0 0 0 0 2 2
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 0 0 1 0 0 1
Hypertrophic cardiomyopathy 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1 3 20 66 6 96
GeneDx 0 0 18 12 6 36
Revvity Omics, Revvity 0 0 16 1 0 17
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 2 9 4 15
Eurofins Ntd Llc (ga) 0 0 7 4 2 13
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 3 3 3 9
Clinical Genetics, Academic Medical Center 0 0 2 0 7 9
Athena Diagnostics 0 0 2 0 6 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 2 4 1 8
Illumina Laboratory Services, Illumina 0 0 5 4 6 8
PreventionGenetics, part of Exact Sciences 0 0 2 5 0 7
Genome-Nilou Lab 0 0 0 0 6 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 1 2 5
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 1 5
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 2 1 1 4
Fulgent Genetics, Fulgent Genetics 0 0 4 0 0 4
CeGaT Center for Human Genetics Tuebingen 0 0 3 1 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 4
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 0 2 2 4
Genetic Services Laboratory, University of Chicago 0 0 1 0 2 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 2 3
Ambry Genetics 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 2
Baylor Genetics 0 0 1 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 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

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