Variants studied for 3M syndrome 2

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
18	10	153	25	52	253

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OBSL1	18	10	153	24	52	252
LOC129935660, OBSL1	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 23

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	139	20	45	204
Genome-Nilou Lab	0	0	0	0	21	21
Fulgent Genetics, Fulgent Genetics	0	0	6	4	2	12
OMIM	6	0	0	0	0	6
Baylor Genetics	2	0	3	0	0	5
Revvity Omics, Revvity	1	1	3	0	0	5
3billion	4	1	0	0	0	5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	3	0	0	0	4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	2	1	0	4
Neuberg Centre For Genomic Medicine, NCGM	1	0	3	0	0	4
Mendelics	0	1	1	0	1	3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	2	0	1	0	0	3
Suma Genomics	2	0	0	0	0	2
Pediatric Endocrinology, Ankara Etlik City Hospital	2	0	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	1	0	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	1	0	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	0	1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	1	0	0	0	0	1
Department of Molecular Biology and Genetics, Istanbul Technical University	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	0	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	0	1	0	0	0	1

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