Variants studied for Geleophysic dysplasia 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	not provided	total
10	4	119	8	19	5	154

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	benign	not provided	total
ADAMTSL2	10	4	119	8	19	5	154

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	111	3	14	0	128
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	3	6	0	9
Genome-Nilou Lab	0	0	0	0	9	0	9
OMIM	8	0	0	0	0	0	8
GeneReviews	0	0	0	0	0	5	5
Fulgent Genetics, Fulgent Genetics	0	0	2	1	0	0	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	3	0	0	0	3
Revvity Omics, Revvity	0	0	2	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	1	0	0	2
Laboratory of Metabolic Disorders, Peking University First Hospital	2	0	0	0	0	0	2
Daryl Scott Lab, Baylor College of Medicine	0	0	2	0	0	0	2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	0	2	0	0	0	2
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research	0	2	0	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	0	0	1

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