ClinVar Miner

Variants studied for Intellectual disability-hypotonic facies syndrome, X-linked, 1

Coded as:
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 not provided total
11 14 36 0 3 1 63

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
ATRX 11 14 35 2 0 60
​intergenic 0 0 0 0 1 1
EPOR 0 0 0 1 0 1
HUWE1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
3billion 4 1 4 0 0 9
Baylor Genetics 1 2 4 0 0 7
Genome-Nilou Lab 0 0 5 1 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 2 1 0 5
MGZ Medical Genetics Center 0 1 3 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 3 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 2 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 1 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Laboratory of Medical Genetics, University of Torino 2 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 1

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