ClinVar Miner

Variants in gene combination LOC126806420, TTN

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
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
6 44 84 122 19 235

Condition and significance breakdown #

Total conditions: 21
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 1 30 22 74 7 134
Cardiovascular phenotype 1 3 19 55 6 84
not provided 2 11 43 23 5 71
not specified 0 0 14 23 10 38
Early-onset myopathy with fatal cardiomyopathy 0 0 11 2 6 17
Myopathy, myofibrillar, 9, with early respiratory failure 0 0 5 2 10 17
Tibial muscular dystrophy 0 0 4 0 12 16
Cardiomyopathy 0 0 2 7 4 13
Dilated cardiomyopathy 1G 0 4 6 3 0 13
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 6 2 6 12
TTN-related disorder 0 1 1 5 1 8
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 5 1 0 6
Hypertrophic cardiomyopathy 0 0 4 0 0 4
Dilated Cardiomyopathy, Dominant 0 0 3 0 0 3
Limb-girdle muscular dystrophy, recessive 0 0 3 0 0 3
Primary dilated cardiomyopathy 0 3 0 0 0 3
See cases 0 0 0 2 0 2
Hypertrophic cardiomyopathy 9 0 0 1 0 0 1
Primary familial dilated cardiomyopathy 1 0 0 0 0 1
TTN-related myopathy 0 0 1 0 0 1
Titinopathy 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1 30 22 75 7 135
Ambry Genetics 1 3 19 55 6 84
GeneDx 2 5 10 17 8 42
Revvity Omics, Revvity 0 2 20 1 0 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 8 9 3 21
Eurofins Ntd Llc (ga) 0 2 16 1 1 20
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 3 6 6 18
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 2 6 4 12
Illumina Laboratory Services, Illumina 0 0 9 5 9 12
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 7 4 11
Athena Diagnostics 0 0 4 0 6 10
PreventionGenetics, part of Exact Sciences 0 1 1 5 3 10
CeGaT Center for Human Genetics Tuebingen 0 1 4 2 1 8
Clinical Genetics, Academic Medical Center 0 0 2 0 5 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 2 2 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 3 2 6
Fulgent Genetics, Fulgent Genetics 0 0 5 1 0 6
Genome-Nilou Lab 0 0 0 0 6 6
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 3 0 2 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 4 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 4 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 3 0 5
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 1 5
Genetic Services Laboratory, University of Chicago 0 0 1 0 3 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 4
Baylor Genetics 0 0 3 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 3 3
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 0 3 0 0 0 3
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 1 1 0 2
AiLife Diagnostics, AiLife Diagnostics 0 2 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 1
Department of Clinical Genetics, Nationwide Children's Hospital 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 1
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.