Variants studied for Lipid proteinosis

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
21	8	5	2	4	7	42

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
ECM1	21	8	5	2	4	7	42

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Genome-Nilou Lab	1	1	1	2	4	0	9
Istanbul Faculty of Medicine, Istanbul University	8	0	0	0	0	0	8
OMIM	7	0	0	0	0	0	7
GeneReviews	0	0	0	0	0	7	7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	2	2	0	0	0	4
Medical Genetics Laboratory, Etlik City Hospital	2	1	0	0	0	0	3
Revvity Omics, Revvity	0	2	0	0	0	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	1	0	0	0	0	2
3billion, Medical Genetics	2	0	0	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	1	1	0	0	0	0	2
Baylor Genetics	0	0	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	0	1
Pars Genome Lab	1	0	0	0	0	0	1

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