ClinVar Miner

Variants in gene combination LOC129935184, 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
2 1 22 16 4 1 35

Condition and significance breakdown #

Total conditions: 15
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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 0 0 19 11 1 0 31
Cardiovascular phenotype 0 0 3 7 1 0 11
not provided 1 0 7 6 1 0 11
Autosomal recessive limb-girdle muscular dystrophy type 2J 1 0 4 1 1 0 6
Early-onset myopathy with fatal cardiomyopathy 1 0 4 1 1 1 6
Myopathy, myofibrillar, 9, with early respiratory failure 0 0 2 1 4 0 6
not specified 0 0 2 4 2 0 6
Dilated cardiomyopathy 1G 0 0 4 1 0 0 5
Tibial muscular dystrophy 0 0 1 1 4 0 5
Cardiomyopathy 0 0 1 0 1 0 2
Hypertrophic cardiomyopathy 1 0 0 0 1 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
TTN-related disorder 0 0 1 0 0 0 1
Tip-toe gait 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 19 11 1 0 31
Ambry Genetics 0 0 3 7 1 0 11
GeneDx 0 0 0 4 2 0 6
Revvity Omics, Revvity 0 0 5 0 0 0 5
Eurofins Ntd Llc (ga) 0 0 5 0 0 0 5
Illumina Laboratory Services, Illumina 0 0 4 1 3 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 3 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 1 1 0 3
CeGaT Center for Human Genetics Tuebingen 1 0 1 1 0 0 3
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 1 0 1 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 0 2
PreventionGenetics, part of Exact Sciences 0 0 1 0 1 0 2
Clinical Genetics, Academic Medical Center 0 0 1 0 1 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 1 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 1 0 2
OMIM 1 0 0 0 0 0 1
Baylor Genetics 0 0 1 0 0 0 1
Athena Diagnostics 0 0 0 0 1 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 0 1 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Blueprint Genetics 0 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 0 0 1

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