Variants studied for Poikiloderma with neutropenia

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
11	4	20	2	4	23	52

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	not provided	total
USB1	11	4	17	2	4	23	49
LOC112469011, USB1	0	0	2	0	0	0	2
LOC130059131, USB1	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
GeneReviews	0	0	0	0	0	23	23
Fulgent Genetics, Fulgent Genetics	0	1	13	2	0	0	16
OMIM	11	0	0	0	0	0	11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	3	0	4
Baylor Genetics	0	0	3	0	0	0	3
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini	0	0	2	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	0	1
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	0	0	0	0	1	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	0	1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1

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