ClinVar Miner

Variants in gene combination LOC126806430, 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
0 12 115 159 22 1 251

Condition and significance breakdown #

Total conditions: 16
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Condition likely pathogenic uncertain significance likely benign benign not provided total
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 11 24 124 16 0 175
not provided 0 65 41 6 0 90
not specified 0 18 32 16 0 52
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 19 1 6 0 26
Early-onset myopathy with fatal cardiomyopathy 0 19 1 6 0 26
Myopathy, myofibrillar, 9, with early respiratory failure 0 6 4 16 0 26
Tibial muscular dystrophy 0 6 3 17 0 26
Dilated cardiomyopathy 1G 1 20 2 1 0 24
Cardiomyopathy 0 8 4 10 0 21
TTN-related disorder 0 2 7 1 1 11
Cardiovascular phenotype 0 3 2 2 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 3 1 0 0 4
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 0 2 0 0 0 2
Primary dilated cardiomyopathy 0 1 0 1 0 2
Long QT syndrome 0 0 1 0 0 1
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy; Atrial fibrillation 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 11 24 124 16 0 175
GeneDx 0 15 34 8 0 57
Eurofins Ntd Llc (ga) 0 22 5 5 0 32
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 9 13 6 0 28
Revvity Omics, Revvity 0 23 0 0 0 23
Illumina Laboratory Services, Illumina 0 19 6 13 0 22
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 8 3 10 0 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 7 8 6 0 21
CeGaT Center for Human Genetics Tuebingen 0 6 11 1 0 18
Clinical Genetics, Academic Medical Center 0 2 0 13 0 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 8 3 0 13
PreventionGenetics, part of Exact Sciences 0 2 7 2 0 11
Athena Diagnostics 0 1 4 5 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 4 6 0 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 3 2 4 0 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 7 0 0 8
Ambry Genetics 0 3 2 2 0 7
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 2 3 1 0 6
Genetic Services Laboratory, University of Chicago 0 2 4 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 4 0 6
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 2 4 0 6
Genome-Nilou Lab 0 0 0 6 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 3 1 0 4
Fulgent Genetics, Fulgent Genetics 0 3 1 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 3 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 0 0 2 1 0 3
Baylor Genetics 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Genetics and Genomics Program, Sidra Medicine 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 1
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 1 0 0 0 0 1

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