Variants studied for PPARG-related familial partial lipodystrophy

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
11	13	9	5	9	44

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
PPARG	10	8	8	4	9	36
LOC114803475, PPARG	1	4	1	1	0	7
BSCL2, HNRNPUL2-BSCL2	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	1	6	5	8	20
Genetic Services Laboratory, University of Chicago	2	5	0	0	0	7
OMIM	6	0	0	0	0	6
Institute of Human Genetics, University of Leipzig Medical Center	1	3	2	0	0	6
New York Genome Center	1	0	1	0	0	2
Institute of Human Genetics, Cologne University	1	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	0	1	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	0	1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	1	0	0	0	1
Genetics Department, Polish Mother's Memorial Hospital Research Institute	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	1	0	0	0	1

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