Variants studied for Donohue 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)

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
17	6	136	30	59	2	247

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	not provided	total
INSR	16	6	135	29	56	2	241
INSR, LOC129391047	0	0	1	1	3	0	5
INSR, LOC129391047, LOC129391048, LOC130063348, LOC130063349, LOC130063350, LOC130063351	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	122	24	55	0	201
Fulgent Genetics, Fulgent Genetics	0	1	16	4	1	0	22
OMIM	15	0	0	0	0	0	15
Genome-Nilou Lab	0	0	0	0	5	0	5
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	3	1	0	0	4
GeneReviews	0	0	0	0	0	2	2
Juno Genomics, Hangzhou Juno Genomics, Inc	0	2	0	0	0	0	2
Pediatrics, Sichuan Provincial Hospital For Women And Children	0	2	0	0	0	0	2
Centre for Medical Genetics, Mumbai	0	0	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	0	1
Laboratory of Molecular Biology and Genetics, St Antoine Hospital - APHP	1	0	0	0	0	0	1
MVZ Medizinische Genetik Mainz	0	1	0	0	0	0	1
Medical Research Institute, Tokyo Medical and Dental University	1	0	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1

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