ClinVar Miner

Variants studied for COACH syndrome 1

Included ClinVar conditions (10):
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
38 47 152 24 3 257

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
TMEM67 29 43 124 24 2 215
CC2D2A 6 3 18 0 1 28
RPGRIP1L 2 1 10 0 0 13
OFD1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 27 36 132 24 0 219
Baylor Genetics 1 1 15 0 0 17
Department of Pathology and Laboratory Medicine, Sinai Health System 4 2 9 0 0 15
OMIM 6 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 1 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 3
New York Genome Center 0 0 3 0 0 3
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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 1
3billion 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

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