ClinVar Miner

Variants studied for KIF7-related ciliopathy

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
68 36 791 615 55 1 1487

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KIF7 61 34 725 549 49 1 1348
KIF7, LOC126862216 6 1 65 66 6 0 136
CEP41 1 0 0 0 0 0 1
CTSD 0 1 0 0 0 0 1
SHH 0 0 1 0 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
Labcorp Genetics (formerly Invitae), Labcorp 54 10 587 595 49 0 1295
Fulgent Genetics, Fulgent Genetics 3 19 253 12 0 0 287
Illumina Laboratory Services, Illumina 0 0 92 12 27 0 131
Baylor Genetics 0 1 16 0 0 0 17
Genome-Nilou Lab 0 0 0 0 12 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 8 0 0 0 9
OMIM 9 0 0 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 3 0 0 0 6
Institute of Medical Genetics, University of Zurich 4 1 1 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 1 0 0 0 0 5
UW Hindbrain Malformation Research Program, University of Washington 4 0 0 0 0 0 4
3billion 0 1 1 1 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Variantyx, Inc. 1 0 0 0 0 0 1

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