ClinVar Miner

Variants studied for COACH syndrome

Included ClinVar conditions (13):
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
65 191 545 62 4 855

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RPGRIP1L 10 82 237 33 1 362
CC2D2A 26 68 188 5 1 283
TMEM67 28 41 120 24 2 209
OFD1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 49 179 529 62 1 818
Baylor Genetics 1 1 15 0 0 17
Juno Genomics, Hangzhou Juno Genomics, Inc 10 2 1 0 0 13
OMIM 12 0 0 0 0 12
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Credence Genomics 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 1

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