ClinVar Miner

Variants in gene combination LOC101927055, 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
0 4 96 65 22 2 146

Condition and significance breakdown #

Total conditions: 13
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Condition likely pathogenic uncertain significance likely benign benign not provided total
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 0 43 16 12 0 71
not specified 0 27 37 17 0 67
not provided 1 37 6 4 2 47
Cardiovascular phenotype 0 8 3 12 0 23
Dilated Cardiomyopathy, Dominant 0 5 11 0 0 16
Distal myopathy Markesbery-Griggs type 0 5 11 0 0 16
Hereditary myopathy with early respiratory failure 0 5 11 0 0 16
Hypertrophic cardiomyopathy 0 5 11 0 0 16
Limb-Girdle Muscular Dystrophy, Recessive 0 5 11 0 0 16
Myopathy, early-onset, with fatal cardiomyopathy 0 5 11 0 0 16
Cardiomyopathy 1 5 1 7 0 14
Primary dilated cardiomyopathy 2 0 0 0 0 2
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 0 15 37 18 1 71
Invitae 0 43 16 12 0 71
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 26 2 6 0 34
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 12 5 13 0 31
Ambry Genetics 0 8 3 12 0 23
Illumina Clinical Services Laboratory,Illumina 0 5 11 0 0 16
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 5 1 7 0 14
Biesecker Lab/Human Development Section,National Institutes of Health 0 5 1 8 0 14
Genetic Services Laboratory, University of Chicago 0 2 4 6 0 12
Athena Diagnostics Inc 0 4 0 3 0 7
PreventionGenetics 0 0 0 6 0 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 1
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 1 0 0 0 0 1
Blueprint Genetics, 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1

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