Variants studied for Exostoses, multiple, type 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	not provided	total
149	19	301	209	59	1	703

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
EXT2	146	18	268	187	52	1	637
EXT2, LOC126861201	2	1	30	22	1	0	56
EXT2, LOC130005598	0	0	3	0	6	0	9
EXT2, LOC130005600, LOC130005601	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 27

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	137	9	240	190	39	0	615
Illumina Laboratory Services, Illumina	0	0	38	24	31	0	93
Baylor Genetics	2	5	65	0	0	0	72
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	2	11	0	0	0	13
OMIM	9	0	0	0	0	0	9
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand	4	0	0	0	0	0	4
Mendelics	0	0	0	3	0	0	3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	2	0	0	0	0	0	2
MGZ Medical Genetics Center	0	1	1	0	0	0	2
Institute of Human Genetics, Cologne University	0	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Clinical Genetics and Genomics, Karolinska University Hospital	1	0	0	0	0	0	1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	1	0	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	1	0	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	1	0	0	0	0	1
Breda Genetics srl	1	0	0	0	0	0	1
Institute of Human Genetics, Heidelberg University	1	0	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	1	0	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	1	0	0	0	0	0	1

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