ClinVar Miner

Variants studied for Tolchin-Le Caignec 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 total
9 3 9 0 0 21

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SOX6 8 3 9 20
LOC108281125, LOC110120926, LOC110121340, SOX6 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 5 0 0 5
Revvity Omics, Revvity 0 1 2 3
Illumina Laboratory Services, Illumina 1 0 2 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 1
New York Genome Center 0 0 1 1
Molecular Genetics Lab, CHRU Brest 1 0 0 1
3billion 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 1

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