Variants studied for Shukla-Vernon 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
4	2	46	2	0	53

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
BCORL1	4	2	46	2	53

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Revvity Omics, Revvity	0	0	11	0	11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	6	0	6
Baylor Genetics	0	0	5	0	5
Fulgent Genetics, Fulgent Genetics	0	0	3	2	5
OMIM	4	0	0	0	4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	3	0	3
Neuberg Centre For Genomic Medicine, NCGM	0	0	3	0	3
Institute of Human Genetics, University of Goettingen	0	0	2	0	2
Centogene AG - the Rare Disease Company	0	1	1	0	2
Genetics and Molecular Pathology, SA Pathology	0	0	2	0	2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	0	2	0	2
New York Genome Center	0	0	2	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	0	1	0	1
Gene Discovery Core-Manton Center, Boston Children's Hospital	0	0	1	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	0	1	0	1
3billion, Medical Genetics	0	0	1	0	1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences	0	0	1	0	1

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