Variants studied for Knobloch syndrome

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
24	6	146	24	66	262

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
COL18A1	12	4	84	8	43	151
COL18A1, SLC19A1	10	2	54	16	23	101
BNAT1, COL18A1	1	0	7	0	0	8
ADAMTS18	0	0	1	0	0	1
PAK2	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 27

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	135	20	51	206
OMIM	11	0	1	0	0	12
Genome-Nilou Lab	0	0	0	0	11	11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	2	8	10
Mendelics	2	0	0	2	4	8
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	0	0	0	7	7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	6	6
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	1	2	0	0	4
Institute of Human Genetics, University of Leipzig Medical Center	1	0	2	1	0	4
Baylor Genetics	0	0	3	0	0	3
Yale Center for Mendelian Genomics, Yale University	3	0	0	0	0	3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	2	0	0	0	2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital	1	1	0	0	0	2
New York Genome Center	0	1	1	0	0	2
DASA	2	0	0	0	0	2
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	1
Molecular Genetics Laboratory, Institute for Ophthalmic Research	1	0	0	0	0	1
Centogene AG - the Rare Disease Company	1	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	1
Sharon lab, Hadassah-Hebrew University Medical Center	1	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	1	0	0	0	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	1	0	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	0	1

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