ClinVar Miner

Variants in gene combination LOC126860802, ZMYND11

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Minimum submission review status: Collection method:
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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
10 11 39 27 12 1 92

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 6 4 26 24 11 0 69
Intellectual disability, autosomal dominant 30 5 6 9 0 2 0 22
Inborn genetic diseases 0 0 4 2 0 0 6
not specified 0 0 4 2 0 0 5
ZMYND11-related disorder 0 1 1 0 0 0 2
Intellectual disability 0 0 0 0 0 1 1
Motor delay; Self-injurious behavior; Absent speech; Self-mutilation; Decreased body weight; Chronic constipation 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4 0 15 24 11 0 54
GeneDx 3 2 12 0 0 0 17
Ambry Genetics 0 0 4 2 0 0 6
Baylor Genetics 1 1 1 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 2 1 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 1 0 0 3
CeGaT Center for Human Genetics Tuebingen 1 1 0 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 0 0 0 3
OMIM 2 0 0 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 1 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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