Variants studied for Knobloch syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level:
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
15	2	89	36	20	158

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
COL18A1	8	2	48	23	9	89
COL18A1, SLC19A1	7	0	40	13	11	68
ADAMTS18	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Clinical Services Laboratory,Illumina	0	0	85	35	11	131
OMIM	9	0	1	0	0	10
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center	0	0	0	2	8	10
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam	0	0	0	0	7	7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	0	0	0	0	6	6
Yale Center for Mendelian Genomics,Yale University	3	0	0	0	0	3
Genomic Research Center,Shahid Beheshti University of Medical Sciences	0	0	2	0	0	2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital	1	1	0	0	0	2
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	0	1	0	0	0	1
Fulgent Genetics,Fulgent Genetics	0	0	1	0	0	1
Institute for Ophthalmic Research,University Tuebingen	1	0	0	0	0	1
Molecular Diagnostics Laboratory,M Health: University of Minnesota	1	0	0	0	0	1
Department of Genetics,Sultan Qaboos University Hospital, Oman	1	0	0	0	0	1

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