ClinVar Miner

Variants in gene TRMU

Minimum submission review status: Collection method:
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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 risk factor not provided total
12 13 92 47 34 1 1 174

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 6 10 60 4 20 0 0 100
Liver failure acute infantile 7 3 38 16 4 0 1 68
not specified 0 0 1 26 18 0 0 44
Inborn genetic diseases 1 1 1 0 0 0 0 3
Deafness, mitochondrial, modifier of 0 0 0 0 0 1 0 1
Long QT syndrome 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 4 8 5 27 29 0 0 73
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 56 2 7 0 0 66
Illumina Clinical Services Laboratory,Illumina 0 0 34 16 4 0 0 54
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 1 7 0 0 8
OMIM 6 0 0 0 0 1 0 7
Counsyl 0 2 2 0 1 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 3 0 0 4
Invitae 1 3 0 0 0 0 0 4
Ambry Genetics 1 1 1 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Medical Research Institute,Tokyo Medical and Dental University 0 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1

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