ClinVar Miner

Variants in gene combination LOC126806433, 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
2 30 98 121 9 1 226

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 21 17 90 2 0 132
not provided 0 4 58 27 4 1 79
Cardiovascular phenotype 0 3 23 37 1 0 64
not specified 0 0 17 19 6 0 38
Cardiomyopathy 0 0 7 6 0 0 13
Dilated cardiomyopathy 1G 0 2 8 0 2 0 12
Early-onset myopathy with fatal cardiomyopathy 0 1 7 1 2 0 11
Myopathy, myofibrillar, 9, with early respiratory failure 0 0 7 0 4 0 11
Tibial muscular dystrophy 0 0 6 0 4 0 10
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 7 0 2 0 9
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 8 0 0 0 8
TTN-related disorder 0 1 5 0 0 0 6
Primary dilated cardiomyopathy 0 0 2 1 0 0 3
Hypertrophic cardiomyopathy 0 0 2 0 0 0 2
Congenital multicore myopathy with external ophthalmoplegia 0 1 0 0 0 0 1
Dilated Cardiomyopathy, Dominant 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 9 0 0 1 0 0 0 1
Limb-girdle muscular dystrophy, recessive 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 21 17 90 2 0 132
Ambry Genetics 0 3 23 37 1 0 64
GeneDx 0 1 22 27 6 1 57
Revvity Omics, Revvity 0 0 28 1 0 0 29
Eurofins Ntd Llc (ga) 0 0 20 0 1 0 21
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 6 6 2 0 14
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 7 6 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 6 4 1 0 11
Illumina Laboratory Services, Illumina 0 0 8 1 3 0 9
CeGaT Center for Human Genetics Tuebingen 0 0 4 5 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 8 0 0 0 8
Athena Diagnostics 0 0 5 1 1 0 7
PreventionGenetics, part of Exact Sciences 0 1 5 0 1 0 7
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 3 0 1 0 4
Clinical Genetics, Academic Medical Center 0 0 0 0 4 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 0 0 1 1 2 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 1 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 2 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Blueprint Genetics 0 1 1 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
Genetics and Genomics Program, Sidra Medicine 0 0 1 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Baylor Genetics 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
James R Lupski Laboratory, Baylor College Of Medicine 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 0 1 0 0 0 0 1

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