ClinVar Miner

Variants in gene TXNRD2

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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 total
1 1 336 279 88 665

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary dilated cardiomyopathy 0 0 241 197 43 480
Cardiovascular phenotype 0 0 166 97 14 277
not provided 0 0 68 60 48 175
not specified 0 0 2 31 22 55
Glucocorticoid deficiency 5 1 1 15 2 9 27
TXNRD2-related condition 0 0 4 14 3 21
Inborn genetic diseases 0 0 5 0 0 5
Primary familial hypertrophic cardiomyopathy 0 0 5 0 0 5
Cardiomyopathy 0 0 1 0 0 1
Ependymoma 0 0 1 0 0 1
TXNRD2-associated Cardiomyopathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 239 200 43 482
Ambry Genetics 0 0 171 97 14 282
GeneDx 0 0 67 82 70 219
PreventionGenetics, part of Exact Sciences 0 0 4 14 3 21
Fulgent Genetics, Fulgent Genetics 0 0 13 2 4 19
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 14 0 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 13 0 14
Blueprint Genetics 0 0 9 0 0 9
CeGaT Center for Human Genetics Tuebingen 0 0 1 5 0 6
Genome-Nilou Lab 0 0 0 0 5 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
New York Genome Center 0 0 2 0 0 2
OMIM 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
McDonnell Genome Institute, Washington University in St. Louis 0 0 1 0 0 1
Phosphorus, Inc. 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1

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