Variants studied for geroderma osteodysplastica

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
9	5	63	3	14	91

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GORAB	9	5	63	3	14	91

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	39	2	12	53
Genome-Nilou Lab	1	1	30	1	7	40
OMIM	6	0	0	0	0	6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	2	3
Revvity Omics, Revvity	1	0	2	0	0	3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	2	0	0	0	0	2
Baylor Genetics	0	0	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	0	0	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	1	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	0	1	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	1	0	0	0	1

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