ClinVar Miner

Variants in gene combination KMT2A, TTC36

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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
9 4 71 71 16 165

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 3 0 64 69 16 147
Wiedemann-Steiner syndrome 6 3 4 0 0 13
Inborn genetic diseases 2 0 3 3 0 8
KMT2A-related condition 0 0 0 3 2 5
not specified 0 0 1 0 1 2
Neurodevelopmental disorder 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 50 62 7 120
GeneDx 3 0 12 8 11 34
Ambry Genetics 2 0 3 3 0 8
CeGaT Center for Human Genetics Tuebingen 1 0 2 5 0 8
PreventionGenetics, part of Exact Sciences 0 0 0 3 2 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Mendelics 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 1 1
3billion 0 1 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 0 0 1

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