ClinVar Miner

Variants in gene TMPO

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 total
0 0 136 67 32 208

Condition and significance breakdown #

Total conditions: 9
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Condition uncertain significance likely benign benign total
Loeys-Dietz syndrome 2 48 15 14 77
not specified 19 35 20 69
not provided 35 8 13 55
Dilated Cardiomyopathy, Dominant 40 14 0 54
Cardiovascular phenotype 12 12 12 36
Dilated cardiomyopathy 1T 3 2 2 6
Cardiomyopathy 0 0 4 4
Primary dilated cardiomyopathy 3 1 0 4
Primary familial hypertrophic cardiomyopathy 3 0 0 3

Submitter and significance breakdown #

Total submitters: 18
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Submitter uncertain significance likely benign benign total
Invitae 48 15 14 77
GeneDx 20 31 23 74
Illumina Clinical Services Laboratory,Illumina 40 14 0 54
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 17 13 16 46
Ambry Genetics 12 12 12 36
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 13 5 9 27
Integrated Genetics/Laboratory Corporation of America 2 0 6 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 3 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 2 1 3
Blueprint Genetics 3 0 0 3
Stanford Center for Inherited Cardiovascular Disease,Stanford University 2 0 1 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 2 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 2 0 0 2
Phosphorus, Inc. 2 0 0 2
OMIM 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 1
Center for Human Genetics,University of Leuven 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 0 1

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