Variants studied for Diamond-Blackfan anemia 6

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	association	risk factor	total
17	9	33	19	18	1	1	87

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	risk factor	total
DIPK1A, RPL5	14	8	27	12	9	1	1	65
RPL5	2	1	6	7	9	0	0	21
BRDT, BTBD8, C1orf146, CCDC18, DIPK1A, DR1, EPHX4, EVI5, FNBP1L, GFI1, GLMN, MTF2, RPAP2, RPL5, SNORD21, TMED5	1	0	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	risk factor	total
Illumina Laboratory Services, Illumina	0	0	11	3	18	0	0	32
Fulgent Genetics, Fulgent Genetics	1	0	10	17	0	0	0	28
Revvity Omics, Revvity	2	3	6	0	0	0	0	11
OMIM	8	0	0	0	0	0	0	8
Baylor Genetics	2	1	2	0	0	0	0	5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	2	0	0	0	0	4
3billion	1	3	0	0	0	0	0	4
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	0	0	0	0	2
Clinical Laboratory Sciences, Imam Abdulrahman Bin Faisal University	0	0	0	0	0	1	1	2
Mendelics	1	0	0	0	0	0	0	1
Department of Medical Genetics, Oslo University Hospital	1	0	0	0	0	0	0	1
Dr. Faghihi's Medical Genetic Center	1	0	0	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	0	0	0	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	0	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	0	0	0	1
University of Washington Department of Laboratory Medicine, University of Washington	0	1	0	0	0	0	0	1
Eurofins-Biomnis	1	0	0	0	0	0	0	1

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