ClinVar Miner

Variants in gene TGM1

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Minimum submission review status: Collection method:
Minimum conflict level:
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
72 55 58 6 3 161

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Autosomal recessive congenital ichthyosis 1 57 45 31 0 0 116
not provided 30 12 1 2 0 43
Congenital ichthyosiform erythroderma 0 0 27 3 0 30
not specified 0 0 0 2 3 4
Ichthyosis 3 0 0 0 0 3
Lamellar ichthyosis 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 14 36 26 0 0 76
OMIM 39 0 0 0 0 39
GeneDx 25 8 1 1 1 36
Illumina Clinical Services Laboratory,Illumina 1 1 28 3 0 33
Uitto Lab,Thomas Jefferson University 6 5 2 0 0 13
Invitae 10 2 0 0 0 12
Fulgent Genetics,Fulgent Genetics 3 2 0 0 0 5
PreventionGenetics 0 0 0 2 2 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 0 1 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 1 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 2 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Faculty of Health Sciences-Genetics Diagnosis Lab,Islamic University of Gaza 1 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 1

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