ClinVar Miner

Variants in gene combination LOC126806422, 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 66 130 172 24 2 338

Condition and significance breakdown #

Total conditions: 21
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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 1 44 31 129 6 0 211
Cardiovascular phenotype 1 9 28 72 5 0 114
not provided 5 6 72 46 7 1 110
not specified 1 0 30 33 16 0 68
Cardiomyopathy 0 2 10 6 8 0 26
Dilated cardiomyopathy 1G 0 7 12 4 0 0 23
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 12 3 7 0 19
Early-onset myopathy with fatal cardiomyopathy 0 0 12 3 7 0 19
Myopathy, myofibrillar, 9, with early respiratory failure 0 0 5 1 15 0 19
Tibial muscular dystrophy 0 0 4 1 15 0 19
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 9 3 0 0 12
TTN-related disorder 0 0 0 7 3 1 11
Primary dilated cardiomyopathy 1 8 0 1 0 0 10
Brugada syndrome 0 0 1 0 0 0 1
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 9 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy; Ventricular tachycardia; Familial dilated cardiomyopathy and peripheral neuropathy 0 0 0 0 1 0 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 0 1 0 1
Primary familial dilated cardiomyopathy 0 1 0 0 0 0 1
See cases 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 44 31 130 6 0 212
Ambry Genetics 1 9 28 72 5 0 114
GeneDx 4 3 18 48 6 1 80
Eurofins Ntd Llc (ga) 0 0 33 1 2 0 36
Revvity Omics, Revvity 0 1 33 0 0 0 34
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 15 9 5 0 30
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 2 9 6 8 0 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 9 12 3 0 25
CeGaT Center for Human Genetics Tuebingen 0 0 9 10 2 0 21
Athena Diagnostics 0 0 5 1 9 0 15
Clinical Genetics, Academic Medical Center 0 1 2 1 11 0 15
Illumina Laboratory Services, Illumina 0 0 12 4 10 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 3 9 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 3 4 3 0 12
Fulgent Genetics, Fulgent Genetics 0 0 9 3 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 5 4 0 11
PreventionGenetics, part of Exact Sciences 0 0 0 7 3 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 4 4 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 3 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 7 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 3 1 2 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 3 1 0 5
Breakthrough Genomics, Breakthrough Genomics 0 0 1 4 0 0 5
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 0 5 0 0 0 0 5
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 2 0 2 0 4
Baylor Genetics 0 0 3 0 0 0 3
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 3 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 3 0 0 0 3
Blueprint Genetics 0 2 0 0 0 0 2
Genetics and Genomics Program, Sidra Medicine 0 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Center for Human Genetics, University of Leuven 1 0 0 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Research Unit of Cardiovascular and Metabolic Disease, Inserm 0 1 0 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 1 0 0 0 0 1

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