ClinVar Miner

Variants in gene TMEM94

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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 total
14 11 140 45 6 210

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Inborn genetic diseases 3 0 105 9 1 118
not provided 3 2 19 23 5 51
Intellectual developmental disorder with cardiac defects and dysmorphic facies 8 7 19 0 2 34
TMEM94-related disorder 2 1 5 23 3 34
not specified 0 0 2 2 0 4
Rare syndromic intellectual disability 2 0 0 0 0 2
Abnormality of the nervous system 0 1 0 0 0 1
Prostate cancer 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 3 0 105 9 1 118
PreventionGenetics, part of Exact Sciences 0 1 5 23 3 32
CeGaT Center for Human Genetics Tuebingen 0 0 2 23 1 26
GeneDx 2 2 14 0 0 18
Baylor Genetics 0 0 9 0 0 9
Breakthrough Genomics, Breakthrough Genomics 0 1 0 3 4 8
OMIM 7 0 0 0 0 7
Labcorp Genetics (formerly Invitae), Labcorp 1 0 1 0 2 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
3billion 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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