Variants studied for Bruck 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
6	5	60	3	21	93

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
PLOD2	6	4	58	3	21	90
LOC129389144, PLOD2	0	1	2	0	0	3

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	52	2	17	71
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	2	2	3	7
Genome-Nilou Lab	0	0	0	0	6	6
OMIM	4	0	0	0	0	4
Revvity Omics, Revvity	1	2	1	0	0	4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	2	2
Johns Hopkins Genomics, Johns Hopkins University	0	0	2	0	0	2
Institute of Human Genetics, Cologne University	0	0	1	0	0	1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	0	1	0	0	0	1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	0	1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	0	0	1	0	0	1
3billion	0	0	1	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	0	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	1	0	0	0	1

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