Variants studied for COACH syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
27	12	72	23	3	136

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	18	8	45	23	2	95
CC2D2A	6	3	17	0	1	27
RPGRIP1L	2	1	10	0	0	13
OFD1	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	17	5	57	23	0	102
Baylor Genetics	1	1	15	0	0	17
OMIM	6	0	0	0	0	6
Genomic Research Center, Shahid Beheshti University of Medical Sciences	2	1	1	0	0	4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research 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
New York Genome Center	0	0	2	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
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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