ClinVar Miner

Variants studied for Alkuraya-Kucinskas 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 total
14 11 46 1 4 76

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BLTP1 14 11 46 1 4 76

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Revvity Omics, Revvity 2 4 12 0 0 18
Baylor Genetics 1 0 9 0 0 10
OMIM 6 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 1 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 2 0 0 5
Genome-Nilou Lab 0 0 0 0 4 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 2
New York Genome Center 0 0 2 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 1
Institute of Bioinformatics 0 1 0 0 0 1
Medical Genetics, Spectrum Health 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 1 0 0 1

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