ClinVar Miner

Variants in gene STAG2

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
26 17 290 266 96 1 668

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 11 6 247 251 95 0 598
Mullegama-Klein-Martinez syndrome 10 3 20 0 1 1 35
STAG2-related disorder 1 6 10 9 5 0 31
Inborn genetic diseases 1 1 19 5 1 0 27
Holoprosencephaly 13, X-linked 5 0 3 1 1 0 10
Mullegama-Klein-Martinez syndrome; Holoprosencephaly 13, X-linked 0 1 1 4 0 0 6
not specified 0 0 2 2 0 0 4
Neurodevelopmental disorder 0 1 0 0 0 0 1
See cases 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 6 1 161 239 77 0 484
GeneDx 3 2 76 2 19 0 102
Ambry Genetics 1 1 19 5 1 0 27
PreventionGenetics, part of Exact Sciences 0 1 8 9 5 0 23
CeGaT Center for Human Genetics Tuebingen 0 2 8 12 0 0 22
Baylor Genetics 1 5 5 0 0 0 11
OMIM 8 0 2 0 0 0 10
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 6 0 6
Revvity Omics, Revvity 1 1 3 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 2 0 2 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 1 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 1 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 0 2
Genome-Nilou Lab 0 0 0 1 1 0 2
3billion 0 0 1 1 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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