Variants studied for Meier-Gorlin syndrome 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)

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
15	10	47	9	11	2	88

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
ORC1	14	8	45	9	11	2	83
DONSON	0	1	1	0	0	0	2
FGFR2	1	0	0	0	0	0	1
LOC126805733, ORC1	0	0	1	0	0	0	1
SZT2	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 22

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	1	36	7	11	0	55
OMIM	7	0	0	0	0	0	7
3billion	1	2	0	1	0	0	4
Baylor Genetics	1	1	2	0	0	0	4
Fulgent Genetics, Fulgent Genetics	1	0	0	3	0	0	4
Bicknell laboratory, University of Otago	3	0	0	0	0	0	3
Department of Pathology and Laboratory Medicine, Sinai Health System	0	2	1	0	0	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	2	0	0	0	3
Revvity Omics, Revvity	2	0	1	0	0	0	3
Dubai Health Genomic Medicine Center, Dubai Health	0	0	1	0	1	0	2
Institute of Human Genetics, University of Goettingen	0	1	1	0	0	0	2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	1	1	0	0	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	1	0	0	0	2
Variantyx, Inc.	1	1	0	0	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	0	0	1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	1	0	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	1	0	0	0	0	0	1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	0	1

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