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
88 61 130 148 30 368

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Autosomal recessive congenital ichthyosis 1 61 47 128 23 22 242
not provided 54 19 5 133 27 233
not specified 0 0 0 2 3 4
Ichthyosis (disease) 3 0 0 0 0 3
Lamellar ichthyosis 3 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 38 8 0 130 27 203
Natera, Inc. 11 1 51 13 18 94
Counsyl 14 36 26 0 0 76
Illumina Clinical Services Laboratory,Illumina 1 1 56 9 7 74
OMIM 39 0 0 0 0 39
GeneDx 27 8 1 1 1 38
Uitto Lab,Thomas Jefferson University 6 5 2 0 0 13
Fulgent Genetics,Fulgent Genetics 3 2 0 0 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 2 3 0 0 5
PreventionGenetics, PreventionGenetics 0 0 0 2 2 4
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 1 2 0 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 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
Myriad Women's Health, Inc. 2 0 0 0 0 2
Medical Genetics Laboratory, West China Hospital, Sichuan University 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Mendelics 0 0 0 1 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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 1
Laboratorio de Medicina Genomica,Instituto Nacional de Rehabilitacion Luis Guillermo Ibarra Ibarra 1 0 0 0 0 1

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