ClinVar Miner

Variants studied for intellectual disability-hypotonia-spasticity-sleep disorder syndrome

Included ClinVar conditions (1):
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
5 5 84 9 14 1 114

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 not provided total
ANK3 5 5 84 8 14 1 113
SHANK3 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 0 0 22 3 0 0 25
Revvity Omics, Revvity 0 1 12 0 0 0 13
Genome-Nilou Lab 0 0 0 0 13 0 13
Baylor Genetics 0 0 12 0 0 0 12
New York Genome Center 0 0 10 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 0 8 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 0 5
Mendelics 1 0 1 1 1 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 0 0 4
3billion 0 0 0 4 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 1 0 0 3
OMIM 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 1

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