ClinVar Miner

Variants studied for COACH syndrome

Included ClinVar conditions (17):
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 total
71 201 552 62 5 876

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 total
RPGRIP1L 13 83 238 33 2 368
CC2D2A 26 73 189 5 1 287
TMEM67 30 45 125 24 2 219
CC2D2A, FBXL5 1 0 0 0 0 1
OFD1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 49 179 529 62 1 818
Department of Pathology and Laboratory Medicine, Sinai Health System 5 4 11 0 1 21
Baylor Genetics 1 1 15 0 0 17
Juno Genomics, Hangzhou Juno Genomics, Inc 12 2 3 0 0 17
OMIM 12 0 0 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 4 0 0 7
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 4 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 1 0 0 4
New York Genome Center 0 0 4 0 0 4
Genome-Nilou Lab 0 0 0 0 2 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 2 0 0 0 2
TIDEX, University of British Columbia 2 0 0 0 0 2
University of Iowa Renal Genetics Clinic, University of Iowa 0 2 0 0 0 2
3billion 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 1
Credence Genomics 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 1

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