ClinVar Miner

Variants studied for THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Included ClinVar conditions (1):
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 not provided total
13 12 11 1 2 4 32

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
THOC6 13 11 11 1 2 4 31
FBN1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 1 2 7 0 0 0 10
OMIM 9 0 0 0 0 0 9
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 2
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
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 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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