ClinVar Miner

Variants studied for Menke-Hennekam syndrome 2

Included ClinVar conditions (3):
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
3 3 17 7 6 36

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 total
EP300 3 2 15 7 5 32
EP300, LOC126863158 0 1 2 0 1 4

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 1 0 4 6 1 12
Genome-Nilou Lab 0 0 0 0 5 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 4
OMIM 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Suma Genomics 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 1

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