Variants studied for hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

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	affects	not provided	total
13	2	26	4	1	5	1	50

Gene and significance breakdown #

Total genes and gene combinations: 11

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	not provided	total
HBB, LOC106099062, LOC107133510	10	2	7	0	1	0	1	19
HBB, LOC107133510, LOC110006319	0	0	6	0	0	0	0	6
HBD	0	0	6	0	0	0	0	6
HBD, LOC106099063	0	0	4	1	0	0	0	5
KLF1, LOC117125591	2	0	0	0	0	3	0	5
HBD, LOC109951029	0	0	3	0	0	0	0	3
KLF1	0	0	0	1	0	1	0	2
GCDH, KLF1, LOC117125594	1	0	0	0	0	0	0	1
HBG1	0	0	0	1	0	0	0	1
HBG1, LOC106099064	0	0	0	1	0	0	0	1
KLF1, LOC130063673	0	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	not provided	total
Illumina Laboratory Services, Illumina	0	0	26	1	1	0	0	28
Fulgent Genetics, Fulgent Genetics	9	2	0	1	0	0	0	12
OMIM	0	0	0	0	0	5	0	5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	2	0	0	0	2
Department of Medical Genetics, Oslo University Hospital	2	0	0	0	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	2	0	0	0	0	0	0	2
Baylor Genetics	1	0	0	0	0	0	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	1	0	0	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	0	1	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	0	0	0	0	0	1

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