ClinVar Miner

Variants in gene THOC6

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
17 18 49 20 4 4 98

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inborn genetic diseases 5 0 40 1 0 0 46
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 14 12 11 1 2 4 33
not provided 6 7 2 15 4 0 30
THOC6-related disorder 0 4 0 3 1 0 8

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 5 0 40 1 0 0 46
Labcorp Genetics (formerly Invitae), Labcorp 0 1 0 10 1 0 12
CeGaT Center for Human Genetics Tuebingen 3 2 0 6 0 0 11
Baylor Genetics 1 2 7 0 0 0 10
OMIM 9 0 0 0 0 0 9
GeneDx 1 3 2 0 2 0 8
PreventionGenetics, part of Exact Sciences 0 4 0 3 1 0 8
GeneReviews 1 0 0 0 0 3 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 0 1 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 0 0 0 4
Revvity Omics, Revvity 0 2 1 0 0 0 3
Medgenome Labs Pvt Ltd 2 0 1 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 3 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 1 0 0 0 2
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 0 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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